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Number of items: 8.
B
Bashamboo, A;
Ferraz-de-Souza, B;
Lourenco, D;
Lin, L;
Sebire, NJ;
Montjean, D;
Bignon-Topalovic, J;
... McElreavey, K; + view all
(2010)
Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1.
The American Journal of Human Genetics
, 87
(4)
505 - 512.
10.1016/j.ajhg.2010.09.009.
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Brain, CE;
Creighton, SM;
Mushtaq, I;
Carmichael, PA;
Barnicoat, A;
Honour, JW;
Larcher, V;
(2010)
Holistic management of DSD.
Best Practice and Research Clinical Endocrinology and Metabolism
, 24
(2)
335 - 354.
10.1016/j.beem.2010.01.006.
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F
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Frost, JM;
Monk, D;
Stojilkovic-Mikic, T;
Woodfine, K;
Chitty, LS;
Murrell, A;
Stanier, P;
(2010)
Evaluation of allelic expression of imprinted genes in adult human blood.
PLoS One
, 5
(10)
, Article e13556. 10.1371/journal.pone.0013556.
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L
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Lassot, I;
Robbins, I;
Kristiansen, M;
Rahmeh, R;
Jaudon, F;
Magiera, M;
Mora, S;
... Desagher, S; + view all
(2010)
Trim17, novel E3 ubiquitin-ligase, initiates neuronal apoptosis.
Cell Death and Differentiation
, 17
(12)
1928 - 1941.
10.1038/cdd.2010.73.
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Lopez, LC;
Quinzii, CM;
Area, E;
Naini, A;
Rahman, S;
Schuelke, M;
Salviati, L;
... Hirano, M; + view all
(2010)
Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects.
PLOS ONE
, 5
(7)
, Article e11897. 10.1371/journal.pone.0011897.
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M
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Morgan, NV;
Morris, MR;
Cangul, H;
Gleeson, D;
Straatman-Iwanowska, A;
Davies, N;
Keenan, S;
... Maher, ER; + view all
(2010)
Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial Rosai-Dorfman Disease.
PLoS Genetics
, 6
(2)
, Article e1000833. 10.1371/journal.pgen.1000833.
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R
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Raychaudhuri, S;
Korn, JM;
McCarroll, SA;
International Schizophrenia, C;
Altshuler, D;
Sklar, P;
Purcell, S;
(2010)
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function.
PLoS Genetics
, 6
(9)
, Article e1001097. 10.1371/journal.pgen.1001097.
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S
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Sahakitrungruang, T;
Soccio, RE;
Lang-Muritano, M;
Walker, JM;
Achermann, JC;
Miller, WL;
(2010)
Clinical, Genetic, and Functional Characterization of Four Patients Carrying Partial Loss-of-Function Mutations in the Steroidogenic Acute Regulatory Protein (StAR).
The Journal of Clinical Endocrinology & Metabolism
, 95
(7)
3352 - 3359.
10.1210/jc.2010-0437.
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