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<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/dc/terms/title> "Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement."^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/ontology/bibo/abstract> "Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis."^^<http://www.w3.org/2001/XMLSchema#string> .
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<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1369493#authors> .
<https://discovery.ucl.ac.uk/id/eprint/1369493#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_31> <https://discovery.ucl.ac.uk/id/person/ext-08a85c2d23cd812d13881d2208c8ebb2> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-4b603cf39c9068e0324b8de5e3b249f0> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1369493#authors> .
<https://discovery.ucl.ac.uk/id/eprint/1369493#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_32> <https://discovery.ucl.ac.uk/id/person/ext-4b603cf39c9068e0324b8de5e3b249f0> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-bf7e404779808be8846c61930cbd239e> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1369493#authors> .
<https://discovery.ucl.ac.uk/id/eprint/1369493#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_33> <https://discovery.ucl.ac.uk/id/person/ext-bf7e404779808be8846c61930cbd239e> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-24adae16bffd65bae8dba37cda206e16> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1369493#authors> .
<https://discovery.ucl.ac.uk/id/eprint/1369493#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_34> <https://discovery.ucl.ac.uk/id/person/ext-24adae16bffd65bae8dba37cda206e16> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-c938dbd2ac75b64783339e39a5a92bcc> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/1369493#authors> .
<https://discovery.ucl.ac.uk/id/eprint/1369493#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_35> <https://discovery.ucl.ac.uk/id/person/ext-c938dbd2ac75b64783339e39a5a92bcc> .
<https://discovery.ucl.ac.uk/id/person/ext-509c8baf07a0cf4721fe4ef74462b6d5> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-509c8baf07a0cf4721fe4ef74462b6d5> <http://xmlns.com/foaf/0.1/givenName> "JB"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-509c8baf07a0cf4721fe4ef74462b6d5> <http://xmlns.com/foaf/0.1/familyName> "Yntema"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-509c8baf07a0cf4721fe4ef74462b6d5> <http://xmlns.com/foaf/0.1/name> "JB Yntema"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-107319a1aab4e413bd61b455ad2e7434> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-107319a1aab4e413bd61b455ad2e7434> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-107319a1aab4e413bd61b455ad2e7434> <http://xmlns.com/foaf/0.1/familyName> "Superti-Furga"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-107319a1aab4e413bd61b455ad2e7434> <http://xmlns.com/foaf/0.1/name> "A Superti-Furga"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2c9f94634a7a5d49689c9653deedaf97> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-2c9f94634a7a5d49689c9653deedaf97> <http://xmlns.com/foaf/0.1/givenName> "K"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2c9f94634a7a5d49689c9653deedaf97> <http://xmlns.com/foaf/0.1/familyName> "Devriendt"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-2c9f94634a7a5d49689c9653deedaf97> <http://xmlns.com/foaf/0.1/name> "K Devriendt"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-24adae16bffd65bae8dba37cda206e16> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-24adae16bffd65bae8dba37cda206e16> <http://xmlns.com/foaf/0.1/givenName> "R"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-24adae16bffd65bae8dba37cda206e16> <http://xmlns.com/foaf/0.1/familyName> "Roepman"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-24adae16bffd65bae8dba37cda206e16> <http://xmlns.com/foaf/0.1/name> "R Roepman"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-98d032d1a640805c9fa56dd5131787b6> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-98d032d1a640805c9fa56dd5131787b6> <http://xmlns.com/foaf/0.1/givenName> "D"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-98d032d1a640805c9fa56dd5131787b6> <http://xmlns.com/foaf/0.1/familyName> "Antony"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-98d032d1a640805c9fa56dd5131787b6> <http://xmlns.com/foaf/0.1/name> "D Antony"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-4b603cf39c9068e0324b8de5e3b249f0> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-4b603cf39c9068e0324b8de5e3b249f0> <http://xmlns.com/foaf/0.1/givenName> ""^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-4b603cf39c9068e0324b8de5e3b249f0> <http://xmlns.com/foaf/0.1/familyName> "UK10K,"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-4b603cf39c9068e0324b8de5e3b249f0> <http://xmlns.com/foaf/0.1/name> " UK10K,"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-af443e62fdb29d7b012114756fb702fe> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-af443e62fdb29d7b012114756fb702fe> <http://xmlns.com/foaf/0.1/givenName> "LM"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-af443e62fdb29d7b012114756fb702fe> <http://xmlns.com/foaf/0.1/familyName> "Graul-Neumann"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-af443e62fdb29d7b012114756fb702fe> <http://xmlns.com/foaf/0.1/name> "LM Graul-Neumann"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8dee4f4209485d04e56d42f9415a7ba9> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-8dee4f4209485d04e56d42f9415a7ba9> <http://xmlns.com/foaf/0.1/givenName> "HH"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8dee4f4209485d04e56d42f9415a7ba9> <http://xmlns.com/foaf/0.1/familyName> "Arts"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-8dee4f4209485d04e56d42f9415a7ba9> <http://xmlns.com/foaf/0.1/name> "HH Arts"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a172562f066729d310e83cf08c00d90d> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-a172562f066729d310e83cf08c00d90d> <http://xmlns.com/foaf/0.1/givenName> "EJ"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a172562f066729d310e83cf08c00d90d> <http://xmlns.com/foaf/0.1/familyName> "Kamsteeg"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a172562f066729d310e83cf08c00d90d> <http://xmlns.com/foaf/0.1/name> "EJ Kamsteeg"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c938dbd2ac75b64783339e39a5a92bcc> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-c938dbd2ac75b64783339e39a5a92bcc> <http://xmlns.com/foaf/0.1/givenName> "HM"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c938dbd2ac75b64783339e39a5a92bcc> <http://xmlns.com/foaf/0.1/familyName> "Mitchison"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-c938dbd2ac75b64783339e39a5a92bcc> <http://xmlns.com/foaf/0.1/name> "HM Mitchison"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1d50037bb6ef05be497494caacd01300> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-1d50037bb6ef05be497494caacd01300> <http://xmlns.com/foaf/0.1/givenName> "E"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1d50037bb6ef05be497494caacd01300> <http://xmlns.com/foaf/0.1/familyName> "Lausch"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-1d50037bb6ef05be497494caacd01300> <http://xmlns.com/foaf/0.1/name> "E Lausch"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-d896df6735d17fb740686c638286d88d> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-d896df6735d17fb740686c638286d88d> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-d896df6735d17fb740686c638286d88d> <http://xmlns.com/foaf/0.1/familyName> "Kutkowska-Kazmierczak"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-d896df6735d17fb740686c638286d88d> <http://xmlns.com/foaf/0.1/name> "A Kutkowska-Kazmierczak"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-9c48f093a268aa678be5e5f802ac2644> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-9c48f093a268aa678be5e5f802ac2644> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-9c48f093a268aa678be5e5f802ac2644> <http://xmlns.com/foaf/0.1/familyName> "Hoischen"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-9c48f093a268aa678be5e5f802ac2644> <http://xmlns.com/foaf/0.1/name> "A Hoischen"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-9515367d3a7136f0acc7e84e5c535fb2> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-9515367d3a7136f0acc7e84e5c535fb2> <http://xmlns.com/foaf/0.1/givenName> "PJ"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-9515367d3a7136f0acc7e84e5c535fb2> <http://xmlns.com/foaf/0.1/familyName> "Scambler"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-9515367d3a7136f0acc7e84e5c535fb2> <http://xmlns.com/foaf/0.1/name> "PJ Scambler"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b00d3e60cbda371d0999b304a8b1d336> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-b00d3e60cbda371d0999b304a8b1d336> <http://xmlns.com/foaf/0.1/givenName> "RC"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b00d3e60cbda371d0999b304a8b1d336> <http://xmlns.com/foaf/0.1/familyName> "Hennekam"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b00d3e60cbda371d0999b304a8b1d336> <http://xmlns.com/foaf/0.1/name> "RC Hennekam"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-962c2ed662f4aec7e78149bbde508681> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-962c2ed662f4aec7e78149bbde508681> <http://xmlns.com/foaf/0.1/givenName> "N"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-962c2ed662f4aec7e78149bbde508681> <http://xmlns.com/foaf/0.1/familyName> "Roeleveld"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-962c2ed662f4aec7e78149bbde508681> <http://xmlns.com/foaf/0.1/name> "N Roeleveld"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a8740fe40f7e7ae79051b40c8e820378> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-a8740fe40f7e7ae79051b40c8e820378> <http://xmlns.com/foaf/0.1/givenName> "EM"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a8740fe40f7e7ae79051b40c8e820378> <http://xmlns.com/foaf/0.1/familyName> "Bongers"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a8740fe40f7e7ae79051b40c8e820378> <http://xmlns.com/foaf/0.1/name> "EM Bongers"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-5ec288f2bb9d63250b69ff09f12b02fb> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-5ec288f2bb9d63250b69ff09f12b02fb> <http://xmlns.com/foaf/0.1/givenName> "M"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-5ec288f2bb9d63250b69ff09f12b02fb> <http://xmlns.com/foaf/0.1/familyName> "Schmidts"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-5ec288f2bb9d63250b69ff09f12b02fb> <http://xmlns.com/foaf/0.1/name> "M Schmidts"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-552a696a3c0840f19c9625be3b7af597> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-552a696a3c0840f19c9625be3b7af597> <http://xmlns.com/foaf/0.1/givenName> "V"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-552a696a3c0840f19c9625be3b7af597> <http://xmlns.com/foaf/0.1/familyName> "Plagnol"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-552a696a3c0840f19c9625be3b7af597> <http://xmlns.com/foaf/0.1/name> "V Plagnol"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-07671fe93eb7d4ecf077e1f6c2c4d201> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-07671fe93eb7d4ecf077e1f6c2c4d201> <http://xmlns.com/foaf/0.1/givenName> "N"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-07671fe93eb7d4ecf077e1f6c2c4d201> <http://xmlns.com/foaf/0.1/familyName> "Elçioglu"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-07671fe93eb7d4ecf077e1f6c2c4d201> <http://xmlns.com/foaf/0.1/name> "N Elçioglu"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-bf7e404779808be8846c61930cbd239e> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-bf7e404779808be8846c61930cbd239e> <http://xmlns.com/foaf/0.1/givenName> "NV"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-bf7e404779808be8846c61930cbd239e> <http://xmlns.com/foaf/0.1/familyName> "Knoers"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-bf7e404779808be8846c61930cbd239e> <http://xmlns.com/foaf/0.1/name> "NV Knoers"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-7f51cd1fb14301fb8dfb67b79cd75546> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-7f51cd1fb14301fb8dfb67b79cd75546> <http://xmlns.com/foaf/0.1/givenName> "JA"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-7f51cd1fb14301fb8dfb67b79cd75546> <http://xmlns.com/foaf/0.1/familyName> "Veltman"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-7f51cd1fb14301fb8dfb67b79cd75546> <http://xmlns.com/foaf/0.1/name> "JA Veltman"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-35f3b42338d6a2ed09b9f14d62bec577> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-35f3b42338d6a2ed09b9f14d62bec577> <http://xmlns.com/foaf/0.1/givenName> "SF"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-35f3b42338d6a2ed09b9f14d62bec577> <http://xmlns.com/foaf/0.1/familyName> "Smithson"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-35f3b42338d6a2ed09b9f14d62bec577> <http://xmlns.com/foaf/0.1/name> "SF Smithson"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-abba7e9d6ab77f119782c6e999e7a82c> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-abba7e9d6ab77f119782c6e999e7a82c> <http://xmlns.com/foaf/0.1/givenName> "Z"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-abba7e9d6ab77f119782c6e999e7a82c> <http://xmlns.com/foaf/0.1/familyName> "Yap"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-abba7e9d6ab77f119782c6e999e7a82c> <http://xmlns.com/foaf/0.1/name> "Z Yap"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-e2df638ad607d02edd7800bd199fa957> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-e2df638ad607d02edd7800bd199fa957> <http://xmlns.com/foaf/0.1/givenName> "NE"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-e2df638ad607d02edd7800bd199fa957> <http://xmlns.com/foaf/0.1/familyName> "Verbeek"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-e2df638ad607d02edd7800bd199fa957> <http://xmlns.com/foaf/0.1/name> "NE Verbeek"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ac5bdd5e515581d4692c6e439e993e14> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-ac5bdd5e515581d4692c6e439e993e14> <http://xmlns.com/foaf/0.1/givenName> "E"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ac5bdd5e515581d4692c6e439e993e14> <http://xmlns.com/foaf/0.1/familyName> "Forsythe"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-ac5bdd5e515581d4692c6e439e993e14> <http://xmlns.com/foaf/0.1/name> "E Forsythe"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-08a85c2d23cd812d13881d2208c8ebb2> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-08a85c2d23cd812d13881d2208c8ebb2> <http://xmlns.com/foaf/0.1/givenName> "PL"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-08a85c2d23cd812d13881d2208c8ebb2> <http://xmlns.com/foaf/0.1/familyName> "Beales"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-08a85c2d23cd812d13881d2208c8ebb2> <http://xmlns.com/foaf/0.1/name> "PL Beales"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a00de0116716ed029e6514b5c654ed42> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-a00de0116716ed029e6514b5c654ed42> <http://xmlns.com/foaf/0.1/givenName> "D"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a00de0116716ed029e6514b5c654ed42> <http://xmlns.com/foaf/0.1/familyName> "Wellesley"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-a00de0116716ed029e6514b5c654ed42> <http://xmlns.com/foaf/0.1/name> "D Wellesley"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-448696ad2c8dfc8fdc21542d0ddde488> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-448696ad2c8dfc8fdc21542d0ddde488> <http://xmlns.com/foaf/0.1/givenName> "MC"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-448696ad2c8dfc8fdc21542d0ddde488> <http://xmlns.com/foaf/0.1/familyName> "van Maarle"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-448696ad2c8dfc8fdc21542d0ddde488> <http://xmlns.com/foaf/0.1/name> "MC van Maarle"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-550b3900ed25eede252927fcd2777789> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-550b3900ed25eede252927fcd2777789> <http://xmlns.com/foaf/0.1/givenName> "C"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-550b3900ed25eede252927fcd2777789> <http://xmlns.com/foaf/0.1/familyName> "Gilissen"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-550b3900ed25eede252927fcd2777789> <http://xmlns.com/foaf/0.1/name> "C Gilissen"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-700c3d87f63c996b09de22b0997b3c09> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-700c3d87f63c996b09de22b0997b3c09> <http://xmlns.com/foaf/0.1/givenName> "MM"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-700c3d87f63c996b09de22b0997b3c09> <http://xmlns.com/foaf/0.1/familyName> "Oud"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-700c3d87f63c996b09de22b0997b3c09> <http://xmlns.com/foaf/0.1/name> "MM Oud"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-f2bb0067b52c15d6dab9caa6c64ae6a8> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-f2bb0067b52c15d6dab9caa6c64ae6a8> <http://xmlns.com/foaf/0.1/givenName> "RD"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-f2bb0067b52c15d6dab9caa6c64ae6a8> <http://xmlns.com/foaf/0.1/familyName> "Emes"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-f2bb0067b52c15d6dab9caa6c64ae6a8> <http://xmlns.com/foaf/0.1/name> "RD Emes"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-0f75740e70b08fd27a3a03e2b8885c38> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-0f75740e70b08fd27a3a03e2b8885c38> <http://xmlns.com/foaf/0.1/givenName> "J"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-0f75740e70b08fd27a3a03e2b8885c38> <http://xmlns.com/foaf/0.1/familyName> "Stalker"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-0f75740e70b08fd27a3a03e2b8885c38> <http://xmlns.com/foaf/0.1/name> "J Stalker"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b1960df1e2e4de048245f8167af719c6> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-b1960df1e2e4de048245f8167af719c6> <http://xmlns.com/foaf/0.1/givenName> "L"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b1960df1e2e4de048245f8167af719c6> <http://xmlns.com/foaf/0.1/familyName> "Duijkers"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-b1960df1e2e4de048245f8167af719c6> <http://xmlns.com/foaf/0.1/name> "L Duijkers"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-91ef761cdfc4fbdf96539d8c8a0fee33> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> .
<https://discovery.ucl.ac.uk/id/person/ext-91ef761cdfc4fbdf96539d8c8a0fee33> <http://xmlns.com/foaf/0.1/givenName> "H"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-91ef761cdfc4fbdf96539d8c8a0fee33> <http://xmlns.com/foaf/0.1/familyName> "Kayserili"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/person/ext-91ef761cdfc4fbdf96539d8c8a0fee33> <http://xmlns.com/foaf/0.1/name> "H Kayserili"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/EPrint> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/ArticleEPrint> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://purl.org/dc/terms/isPartOf> <https://discovery.ucl.ac.uk/id/repository> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://eprints.org/ontology/hasDocument> <https://discovery.ucl.ac.uk/id/document/42443> .
<https://discovery.ucl.ac.uk/id/document/42443> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/Document> .
<https://discovery.ucl.ac.uk/id/document/42443> <http://www.w3.org/2000/01/rdf-schema#label> "Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (PDF)"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/document/42443> <http://eprints.org/ontology/hasFile> <https://discovery.ucl.ac.uk/id/eprint/1369493/1/1369493.pdf> .
<https://discovery.ucl.ac.uk/id/document/42443> <http://purl.org/dc/terms/hasPart> <https://discovery.ucl.ac.uk/id/eprint/1369493/1/1369493.pdf> .
<https://discovery.ucl.ac.uk/id/eprint/1369493/1/1369493.pdf> <http://www.w3.org/2000/01/rdf-schema#label> "1369493.pdf"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://eprints.org/ontology/hasDocument> <https://discovery.ucl.ac.uk/id/document/116402> .
<https://discovery.ucl.ac.uk/id/document/116402> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://eprints.org/ontology/Document> .
<https://discovery.ucl.ac.uk/id/document/116402> <http://www.w3.org/2000/01/rdf-schema#label> "Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (Other)"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/document/116402> <http://eprints.org/relation/isVersionOf> <https://discovery.ucl.ac.uk/id/document/42443> .
<https://discovery.ucl.ac.uk/id/document/116402> <http://eprints.org/relation/isVolatileVersionOf> <https://discovery.ucl.ac.uk/id/document/42443> .
<https://discovery.ucl.ac.uk/id/document/116402> <http://eprints.org/relation/isIndexCodesVersionOf> <https://discovery.ucl.ac.uk/id/document/42443> .
<https://discovery.ucl.ac.uk/id/document/116402> <http://eprints.org/ontology/hasFile> <https://discovery.ucl.ac.uk/id/eprint/1369493/2/indexcodes.txt> .
<https://discovery.ucl.ac.uk/id/document/116402> <http://purl.org/dc/terms/hasPart> <https://discovery.ucl.ac.uk/id/eprint/1369493/2/indexcodes.txt> .
<https://discovery.ucl.ac.uk/id/eprint/1369493/2/indexcodes.txt> <http://www.w3.org/2000/01/rdf-schema#label> "indexcodes.txt"^^<http://www.w3.org/2001/XMLSchema#string> .
<https://discovery.ucl.ac.uk/id/eprint/1369493> <http://www.w3.org/2000/01/rdf-schema#seeAlso> <https://discovery.ucl.ac.uk/id/eprint/1369493/> .
<https://discovery.ucl.ac.uk/id/eprint/1369493/> <http://purl.org/dc/elements/1.1/title> "HTML Summary of #1369493 \n\nExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.\n\n" .
<https://discovery.ucl.ac.uk/id/eprint/1369493/> <http://purl.org/dc/elements/1.1/format> "text/html" .
<https://discovery.ucl.ac.uk/id/eprint/1369493/> <http://xmlns.com/foaf/0.1/primaryTopic> <https://discovery.ucl.ac.uk/id/eprint/1369493> .