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A Munnich

Showing results (251-260 of 426) with videos related to

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Human Molecular Genetics|August 1, 1995
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung diseaseT Attié, A Pelet, P Edery, et al.
Human Mutation|April 27, 2004
Allelic heterogeneity of SMARD1 at the IGHMBP2 locusI Maystadt, M Zarhrate, P Landrieu, 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.
Genomics|March 21, 1998
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt diseaseS Gerber, J M Rozet, T J van de Pol, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 10, 2000
EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostosesL Legeai-Mallet, A Rossi, C Benoist-Lasselin, 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.
Journal of Medical Genetics|July 1, 1992
Site specific screening for point mutations in ornithine transcarbamylase deficiencyD Feldmann, J M Rozet, A Pelet, 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.
Journal of Inherited Metabolic Disease|January 1, 1984
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical updateJ M Saudubray, H Ogier, C Charpentier, et al.
Pageof 43

Showing results (251-260 of 426) with videos related to

Sort By:
Pageof 43
Human Molecular Genetics|August 1, 1995
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung diseaseT Attié, A Pelet, P Edery, et al.
Human Mutation|April 27, 2004
Allelic heterogeneity of SMARD1 at the IGHMBP2 locusI Maystadt, M Zarhrate, P Landrieu, 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.
Genomics|March 21, 1998
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt diseaseS Gerber, J M Rozet, T J van de Pol, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 10, 2000
EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostosesL Legeai-Mallet, A Rossi, C Benoist-Lasselin, 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.
Journal of Medical Genetics|July 1, 1992
Site specific screening for point mutations in ornithine transcarbamylase deficiencyD Feldmann, J M Rozet, A Pelet, 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.
Journal of Inherited Metabolic Disease|January 1, 1984
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical updateJ M Saudubray, H Ogier, C Charpentier, et al.
Pageof 43