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A Munnich

Showing results (301-310 of 426) with videos related to

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Journal of Medical Genetics|July 7, 2000
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow upD Sanlaville, M C Aubry, Y Dumez, et al.
Investigative Ophthalmology & Visual Science|October 6, 1999
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatusE H Souied, D Ducroq, J M Rozet, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Spectrum of retGC1 mutations in Leber's congenital amaurosisI Perrault, J M Rozet, S Gerber, et al.
Human Mutation|March 14, 2007
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locusE Bal, L Baala, C Cluzeau, et al.
Acta Paediatrica Scandinavica|January 1, 1982
Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiencyA Munnich, J M Saudubray, J Taylor, et al.
Hepatology (Baltimore, Md.)|October 1, 1993
Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liverP Bioulac-Sage, F Parrot-Roulaud, J P Mazat, et al.
American Journal of Medical Genetics|January 8, 1999
Expression of the RET proto-oncogene in human embryosT Attié-Bitach, M Abitbol, M Gérard, et al.
Human Molecular Genetics|November 13, 1998
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophyP Burlet, C Huber, S Bertrandy, et al.
Prenatal Diagnosis|November 25, 1998
Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
Pageof 43

Showing results (301-310 of 426) with videos related to

Sort By:
Pageof 43
Journal of Medical Genetics|July 7, 2000
Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow upD Sanlaville, M C Aubry, Y Dumez, et al.
Investigative Ophthalmology & Visual Science|October 6, 1999
A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatusE H Souied, D Ducroq, J M Rozet, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Spectrum of retGC1 mutations in Leber's congenital amaurosisI Perrault, J M Rozet, S Gerber, et al.
Human Mutation|March 14, 2007
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locusE Bal, L Baala, C Cluzeau, et al.
Acta Paediatrica Scandinavica|January 1, 1982
Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiencyA Munnich, J M Saudubray, J Taylor, et al.
Hepatology (Baltimore, Md.)|October 1, 1993
Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liverP Bioulac-Sage, F Parrot-Roulaud, J P Mazat, et al.
American Journal of Medical Genetics|January 8, 1999
Expression of the RET proto-oncogene in human embryosT Attié-Bitach, M Abitbol, M Gérard, et al.
Human Molecular Genetics|November 13, 1998
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophyP Burlet, C Huber, S Bertrandy, et al.
Prenatal Diagnosis|November 25, 1998
Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literatureL Faivre, N Morichon-Delvallez, G Viot, et al.
Pageof 43