Browse by UCL people
Group by: Type | Date
Number of items: 6.
Article
Abdelhadi, O;
Iancu, D;
Tekman, M;
Stanescu, H;
Bockenhauer, D;
Kleta, R;
(2016)
Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.
Molecular Genetics & Genomic Medicine
, 4
(5)
pp. 521-526.
10.1002/mgg3.227.
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Cabezas, OR;
Flanagan, S;
Stanescu, H;
Garcia-Martinez, E;
Caswell, R;
Lango-Allen, H;
Anton-Gamero, M;
... Bockenhauer, D; + view all
(2017)
Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2.
Journal of the American Society of Nephrology
, 28
(8)
pp. 2529-2539.
10.1681/ASN.2016121312.
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Le Quesne Stabej, P;
James, C;
Ocaka, L;
Tekman, M;
Grunewald, S;
Clement, E;
Stanescu, HC;
... Bitner-Glindzicz, M; + view all
(2017)
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Orphanet Journal of Rare Diseases
, 12
, Article 24. 10.1186/s13023-017-0582-8.
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Le Quesne Stabej, P;
Williams, HJ;
James, C;
Tekman, M;
Stanescu, HC;
Kleta, R;
Ocaka, L;
... GOSgene; + view all
(2016)
STAG3 truncating variant as the cause of primary ovarian insufficiency.
European Journal of Human Genetics
, 24
(1)
pp. 135-138.
10.1038/ejhg.2015.107.
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Mencacci, NE;
Rubio-Agusti, I;
Zdebik, A;
Asmus, F;
Ludtmann, MH;
Ryten, M;
Plagnol, V;
... Wood, NW; + view all
(2015)
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Am J Hum Genet
, 96
(6)
pp. 938-947.
10.1016/j.ajhg.2015.04.008.
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Thesis
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Tekman, M;
(2016)
High-throughput Linkage Analysis Pipeline.
Doctoral thesis , UCL (University College London).
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