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A Munnich

Showing results (321-330 of 426) with videos related to

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Human Genetics|April 17, 1998
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosisI Perrault, S Châtelin, V Nancy, et al.
Journal of Medical Genetics|January 31, 2006
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusL de Pontual, A Pelet, D Trochet, et al.
American Journal of Ophthalmology|August 24, 1999
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic studyE H Souied, D Ducroq, S Gerber, et al.
Neuromuscular Disorders : NMD|June 19, 2001
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin geneN B Romero, P De Lonlay, S Llense, et al.
Nature Genetics|January 1, 1997
Mutations of the TWIST gene in the Saethre-Chotzen syndromeV el Ghouzzi, M Le Merrer, F Perrin-Schmitt, et al.
Journal of Medical Genetics|April 5, 2003
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3L Faivre, M Le Merrer, L I Al-Gazali, et al.
Archives Francaises De Pediatrie|February 1, 1981
[Multiple biotin-dependent carboxylase deficiencies (author's transl)]A Munnich, J M Saudubray, H Ogier, et al.
Nature Genetics|November 1, 1996
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung diseaseR Salomon, T Attié, A Pelet, et al.
Prenatal Diagnosis|March 12, 1999
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
American Journal of Medical Genetics|March 10, 2001
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndromeL Faivre, A Nivelon-Chevallier, M L Kottler, et al.
Pageof 43

Showing results (321-330 of 426) with videos related to

Sort By:
Pageof 43
Human Genetics|April 17, 1998
Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosisI Perrault, S Châtelin, V Nancy, et al.
Journal of Medical Genetics|January 31, 2006
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusL de Pontual, A Pelet, D Trochet, et al.
American Journal of Ophthalmology|August 24, 1999
Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic studyE H Souied, D Ducroq, S Gerber, et al.
Neuromuscular Disorders : NMD|June 19, 2001
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin geneN B Romero, P De Lonlay, S Llense, et al.
Nature Genetics|January 1, 1997
Mutations of the TWIST gene in the Saethre-Chotzen syndromeV el Ghouzzi, M Le Merrer, F Perrin-Schmitt, et al.
Journal of Medical Genetics|April 5, 2003
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3L Faivre, M Le Merrer, L I Al-Gazali, et al.
Archives Francaises De Pediatrie|February 1, 1981
[Multiple biotin-dependent carboxylase deficiencies (author's transl)]A Munnich, J M Saudubray, H Ogier, et al.
Nature Genetics|November 1, 1996
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung diseaseR Salomon, T Attié, A Pelet, et al.
Prenatal Diagnosis|March 12, 1999
Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
American Journal of Medical Genetics|March 10, 2001
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndromeL Faivre, A Nivelon-Chevallier, M L Kottler, et al.
Pageof 43