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A Munnich

Showing results (281-290 of 426) with videos related to

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Human Mutation|March 26, 2003
Identification of seven novel mutations in the GAN geneP Bomont, C Ioos, C Yalcinkaya, et al.
Journal of Inherited Metabolic Disease|January 1, 1989
Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year surveyJ M Saudubray, H Ogier, J P Bonnefont, et al.
Journal of Neurodegenerative Diseases|August 29, 2015
Clinical and Genetic Study of Algerian Patients with Spinal Muscular AtrophyY Sifi, K Sifi, A Boulefkhad, et al.
Gastroenterologie Clinique Et Biologique|January 1, 1997
[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease]C Bidaud, R Salomon, P Edery, et al.
European Journal of Pediatrics|October 1, 1981
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosisA Munnich, J M Saudubray, A Cotisson, et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux|May 1, 1992
[Enzymatic activities of the mitochondrial respiratory chain in child cardiomyopathies. 34 cases prospectively studied by endomyocardial biopsy]D Sidi, J Le Bidois, J F Piéchaud, et al.
Prenatal Diagnosis|April 21, 1999
Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
The Journal of Pediatrics|January 1, 1994
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophyV Cormier-Daire, J P Bonnefont, P Rustin, et al.
American Journal of Medical Genetics|December 30, 1996
Craniofacial anomalies and malformations in respiratory chain deficiencyV Cormier-Daire, P Rustin, A Rötig, et al.
Genomics|February 15, 1997
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn)L Viollet, S Bertrandy, A L Bueno Brunialti, et al.
Pageof 43

Showing results (281-290 of 426) with videos related to

Sort By:
Pageof 43
Human Mutation|March 26, 2003
Identification of seven novel mutations in the GAN geneP Bomont, C Ioos, C Yalcinkaya, et al.
Journal of Inherited Metabolic Disease|January 1, 1989
Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year surveyJ M Saudubray, H Ogier, J P Bonnefont, et al.
Journal of Neurodegenerative Diseases|August 29, 2015
Clinical and Genetic Study of Algerian Patients with Spinal Muscular AtrophyY Sifi, K Sifi, A Boulefkhad, et al.
Gastroenterologie Clinique Et Biologique|January 1, 1997
[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease]C Bidaud, R Salomon, P Edery, et al.
European Journal of Pediatrics|October 1, 1981
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosisA Munnich, J M Saudubray, A Cotisson, et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux|May 1, 1992
[Enzymatic activities of the mitochondrial respiratory chain in child cardiomyopathies. 34 cases prospectively studied by endomyocardial biopsy]D Sidi, J Le Bidois, J F Piéchaud, et al.
Prenatal Diagnosis|April 21, 1999
Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
The Journal of Pediatrics|January 1, 1994
Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophyV Cormier-Daire, J P Bonnefont, P Rustin, et al.
American Journal of Medical Genetics|December 30, 1996
Craniofacial anomalies and malformations in respiratory chain deficiencyV Cormier-Daire, P Rustin, A Rötig, et al.
Genomics|February 15, 1997
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn)L Viollet, S Bertrandy, A L Bueno Brunialti, et al.
Pageof 43