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M Le Merrer

Showing results (131-140 of 188) with videos related to

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American Journal of Medical Genetics|July 1, 1993
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome familiesW F Flintoff, M Bahuau, S Lyonnet, et al.
Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.
American Journal of Human Genetics|February 1, 1995
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndromeB Gilbert-Dussardier, D Bonneau, N Gigarel, et al.
Human Genetics|January 26, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann diseaseB Campos-Xavier, J M Saraiva, R Savarirayan, 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.
European Journal of Pediatrics|August 1, 1996
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromesV Cormier-Daire, C Wolf, A Munnich, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literatureD Geneviève, J Amiel, G Viot, et al.
Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales|January 1, 1997
[Cholesterol and development]C Roux, C Wolf, B Llirbat, et al.
Nature Genetics|May 20, 1998
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)V Belin, V Cusin, G Viot, et al.
Clinical Genetics|September 27, 2000
Genetic homogeneity of the Camurati-Engelmann diseaseA Belinda, C F Xavier, J M Saraiva, et al.
Pageof 19

Showing results (131-140 of 188) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics|July 1, 1993
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome familiesW F Flintoff, M Bahuau, S Lyonnet, et al.
Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.
American Journal of Human Genetics|February 1, 1995
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndromeB Gilbert-Dussardier, D Bonneau, N Gigarel, et al.
Human Genetics|January 26, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann diseaseB Campos-Xavier, J M Saraiva, R Savarirayan, 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.
European Journal of Pediatrics|August 1, 1996
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromesV Cormier-Daire, C Wolf, A Munnich, et al.
American Journal of Medical Genetics. Part A|July 22, 2004
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literatureD Geneviève, J Amiel, G Viot, et al.
Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales|January 1, 1997
[Cholesterol and development]C Roux, C Wolf, B Llirbat, et al.
Nature Genetics|May 20, 1998
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)V Belin, V Cusin, G Viot, et al.
Clinical Genetics|September 27, 2000
Genetic homogeneity of the Camurati-Engelmann diseaseA Belinda, C F Xavier, J M Saraiva, et al.
Pageof 19