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Showing results (41-50 of 51) with videos related to

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European Journal of Medical Genetics|February 14, 2006
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.
Human Mutation|December 8, 2004
DNMT3B mutations and DNA methylation defect define two types of ICF syndromeY L Jiang, M Rigolet, D Bourc'his, et al.
Nature Genetics|November 14, 1997
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionP Jay, C Rougeulle, A Massacrier, et al.
Annals of Neurology|July 1, 1996
Cortical myoclonus in Angelman syndromeR Guerrini, T M De Lorey, P Bonanni, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Human Mutation|January 1, 1997
Nine novel L1 CAM mutations in families with X-linked hydrocephalusJ R MacFarlane, J S Du, M E Pepys, et al.
Neurology|December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionC Cardoso, A Boys, E Parrini, et al.
Journal of Medical Genetics|July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndromeM A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicismG Karadima, M Bugge, P Nicolaidis, et al.
Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
European Journal of Medical Genetics|February 14, 2006
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.
Human Mutation|December 8, 2004
DNMT3B mutations and DNA methylation defect define two types of ICF syndromeY L Jiang, M Rigolet, D Bourc'his, et al.
Nature Genetics|November 14, 1997
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal regionP Jay, C Rougeulle, A Massacrier, et al.
Annals of Neurology|July 1, 1996
Cortical myoclonus in Angelman syndromeR Guerrini, T M De Lorey, P Bonanni, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Human Mutation|January 1, 1997
Nine novel L1 CAM mutations in families with X-linked hydrocephalusJ R MacFarlane, J S Du, M E Pepys, et al.
Neurology|December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionC Cardoso, A Boys, E Parrini, et al.
Journal of Medical Genetics|July 7, 2009
Novel FOXG1 mutations associated with the congenital variant of Rett syndromeM A Mencarelli, A Spanhol-Rosseto, R Artuso, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicismG Karadima, M Bugge, P Nicolaidis, et al.
Molecular Syndromology|November 4, 2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS SignL Desmyter, M Ghassibe, N Revencu, et al.
Pageof 6