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Volume 50; Issue 5
Main
Journal of Medical Genetics
Volume 50; Issue 5
Journal of Medical Genetics
Volume 50; Issue 5
1
Recent advances in the molecular genetics of epilepsy
Hildebrand, M. S.
,
Dahl, H.-H. M.
,
Damiano, J. A.
,
Smith, R. J. H.
,
Scheffer, I. E.
,
Berkovic, S. F.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 201 KB
Your tags:
english, 2013
2
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci
Weissglas-Volkov, D.
,
Aguilar-Salinas, C. A.
,
Nikkola, E.
,
Deere, K. A.
,
Cruz-Bautista, I.
,
Arellano-Campos, O.
,
Munoz-Hernandez, L. L.
,
Gomez-Munguia, L.
,
Ordonez-Sanchez, M. L.
,
Reddy, P. M. V. L.
,
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 414 KB
Your tags:
english, 2013
3
Mutations in WNT1 are a cause of osteogenesis imperfecta
Fahiminiya, S.
,
Majewski, J.
,
Mort, J.
,
Moffatt, P.
,
Glorieux, F. H.
,
Rauch, F.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 238 KB
Your tags:
english, 2013
4
Recent advances in the genetics of sarcoidosis
Spagnolo, P.
,
Grunewald, J.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 208 KB
Your tags:
english, 2013
5
Genetics of arrhythmogenic right ventricular cardiomyopathy
Campuzano, O.
,
Alcalde, M.
,
Allegue, C.
,
Iglesias, A.
,
Garcia-Pavia, P.
,
Partemi, S.
,
Oliva, A.
,
Pascali, V. L.
,
Berne, P.
,
Sarquella-Brugada, G.
,
Brugada, J.
,
Brugada, P.
,
Brugada, R.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 265 KB
Your tags:
english, 2013
6
High rate of mosaicism in individuals with Cornelia de Lange syndrome
Huisman, S. A.
,
Redeker, E. J. W.
,
Maas, S. M.
,
Mannens, M. M.
,
Hennekam, R. C. M.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 212 KB
Your tags:
english, 2013
7
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Schmidts, M.
,
Arts, H. H.
,
Bongers, E. M. H. F.
,
Yap, Z.
,
Oud, M. M.
,
Antony, D.
,
Duijkers, L.
,
Emes, R. D.
,
Stalker, J.
,
Yntema, J.-B. L.
,
Plagnol, V.
,
Hoischen, A.
,
Gilissen, C.
,
Forsythe, E.
,
Lausc
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 550 KB
Your tags:
english, 2013
8
ARHGDIA: a novel gene implicated in nephrotic syndrome
Gupta, I. R.
,
Baldwin, C.
,
Auguste, D.
,
Ha, K. C. H.
,
El Andalousi, J.
,
Fahiminiya, S.
,
Bitzan, M.
,
Bernard, C.
,
Akbari, M. R.
,
Narod, S. A.
,
Rosenblatt, D. S.
,
Majewski, J.
,
Takano, T.
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 502 KB
Your tags:
english, 2013
9
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
Samuels, M. E.
,
Majewski, J.
,
Alirezaie, N.
,
Fernandez, I.
,
Casals, F.
,
Patey, N.
,
Decaluwe, H.
,
Gosselin, I.
,
Haddad, E.
,
Hodgkinson, A.
,
Idaghdour, Y.
,
Marchand, V.
,
Michaud, J. L.
,
Rodrigue, M.-A.
,
Journal:
Journal of Medical Genetics
Year:
2013
Language:
english
File:
PDF, 270 KB
Your tags:
english, 2013
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