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Volume 49; Issue 11
Main
Journal of Medical Genetics
Volume 49; Issue 11
Journal of Medical Genetics
Volume 49; Issue 11
1
Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events
Bi, W.
,
Probst, F. J.
,
Wiszniewska, J.
,
Plunkett, K.
,
Roney, E. K.
,
Carter, B. S.
,
Williams, M. D.
,
Stankiewicz, P.
,
Patel, A.
,
Stevens, C. A.
,
Lupski, J. R.
,
Cheung, S. W.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 412 KB
Your tags:
english, 2012
2
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
Putoux, A.
,
Nampoothiri, S.
,
Laurent, N.
,
Cormier-Daire, V.
,
Beales, P. L.
,
Schinzel, A.
,
Bartholdi, D.
,
Alby, C.
,
Thomas, S.
,
Elkhartoufi, N.
,
Ichkou, A.
,
Litzler, J.
,
Munnich, A.
,
Encha-Razavi, F.
,
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 288 KB
Your tags:
english, 2012
3
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
Sharma, M.
,
Ioannidis, J. P. A.
,
Aasly, J. O.
,
Annesi, G.
,
Brice, A.
,
Bertram, L.
,
Bozi, M.
,
Barcikowska, M.
,
Crosiers, D.
,
Clarke, C. E.
,
Facheris, M. F.
,
Farrer, M.
,
Garraux, G.
,
Gispert, S.
,
Auburg
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 277 KB
Your tags:
english, 2012
4
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
Drielsma, A.
,
Jalas, C.
,
Simonis, N.
,
Desir, J.
,
Simanovsky, N.
,
Pirson, I.
,
Elpeleg, O.
,
Abramowicz, M.
,
Edvardson, S.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 937 KB
Your tags:
english, 2012
5
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations
Legendre, M.
,
Gonzales, M.
,
Goudefroye, G.
,
Bilan, F.
,
Parisot, P.
,
Perez, M.-J.
,
Bonniere, M.
,
Bessieres, B.
,
Martinovic, J.
,
Delezoide, A.-L.
,
Jossic, F.
,
Fallet-Bianco, C.
,
Bucourt, M.
,
Tantau, J.
,
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 222 KB
Your tags:
english, 2012
6
The speech gene FOXP2 is not imprinted
Thomas, A. C.
,
Frost, J. M.
,
Ishida, M.
,
Vargha-Khadem, F.
,
Moore, G. E.
,
Stanier, P.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 133 KB
Your tags:
english, 2012
7
Distinct and replicable genetic risk factors for acute respiratory distress syndrome of pulmonary or extrapulmonary origin
Tejera, P.
,
Meyer, N. J.
,
Chen, F.
,
Feng, R.
,
Zhao, Y.
,
O'Mahony, D. S.
,
Li, L.
,
Sheu, C.-C.
,
Zhai, R.
,
Wang, Z.
,
Su, L.
,
Bajwa, E.
,
Ahasic, A. M.
,
Clardy, P. F.
,
Gong, M. N.
,
Frank, A. J.
,
Lanken, P.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 201 KB
Your tags:
english, 2012
8
Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy
Lim, A. L.
,
Ng, S.
,
Leow, S. C. P.
,
Choo, R.
,
Ito, M.
,
Chan, Y. H.
,
Goh, S. K.
,
Tng, E.
,
Kwek, K.
,
Chong, Y. S.
,
Gluckman, P. D.
,
Ferguson-Smith, A. C.
Journal:
Journal of Medical Genetics
Year:
2012
Language:
english
File:
PDF, 351 KB
Your tags:
english, 2012
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