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A Moncla

Showing results (31-40 of 51) with videos related to

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American Journal of Medical Genetics. Part A|February 26, 2005
Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocationN Philip, L Colleaux, S Sigaudy, et al.
American Journal of Human Genetics|June 1, 1995
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndromeM Jouet, A Moncla, J Paterson, et al.
Journal of Medical Genetics|July 29, 1999
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counsellingA Moncla, P Malzac, M O Livet, et al.
American Journal of Human Genetics|June 1, 1993
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)P Saugier-Veber, V Abadie, A Moncla, et al.
Clinical Dysmorphology|April 1, 1992
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese casesN Philip, P Meinecke, A David, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|January 8, 2000
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndromeV Cormier-Daire, V Belin, V Cusin, et al.
Nature Genetics|May 20, 1998
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)V Belin, V Cusin, G Viot, et al.
American Journal of Human Genetics|June 19, 1998
Mutation analysis of UBE3A in Angelman syndrome patientsP Malzac, H Webber, A Moncla, et al.
American Journal of Medical Genetics|July 12, 1996
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1M Raynaud, C Gendrot, B Dessay, et al.
European Journal of Human Genetics : EJHG|April 10, 1999
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patientsA Moncla, P Malzac, M A Voelckel, et al.
Pageof 6

Showing results (31-40 of 51) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|February 26, 2005
Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocationN Philip, L Colleaux, S Sigaudy, et al.
American Journal of Human Genetics|June 1, 1995
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndromeM Jouet, A Moncla, J Paterson, et al.
Journal of Medical Genetics|July 29, 1999
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counsellingA Moncla, P Malzac, M O Livet, et al.
American Journal of Human Genetics|June 1, 1993
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)P Saugier-Veber, V Abadie, A Moncla, et al.
Clinical Dysmorphology|April 1, 1992
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese casesN Philip, P Meinecke, A David, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|January 8, 2000
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndromeV Cormier-Daire, V Belin, V Cusin, et al.
Nature Genetics|May 20, 1998
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)V Belin, V Cusin, G Viot, et al.
American Journal of Human Genetics|June 19, 1998
Mutation analysis of UBE3A in Angelman syndrome patientsP Malzac, H Webber, A Moncla, et al.
American Journal of Medical Genetics|July 12, 1996
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1M Raynaud, C Gendrot, B Dessay, et al.
European Journal of Human Genetics : EJHG|April 10, 1999
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patientsA Moncla, P Malzac, M A Voelckel, et al.
Pageof 6