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A Munnich

Showing results (181-190 of 573) with videos related to

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Pediatric Nephrology (Berlin, Germany)|April 1, 1994
Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndromeP Niaudet, L Heidet, A Munnich, et al.
Lancet (London, England)|December 24, 1994
De-novo mutations of the RET proto-oncogene in Hirschsprung's diseaseA Pelet, T Attie, O Goulet, et al.
European Journal of Pediatrics|July 1, 1992
X-linked hydrocephalus: clinical heterogeneity at a single gene locusF Serville, S Lyonnet, A Pelet, et al.
Journal of Medical Genetics|March 1, 1993
Genetic background of clinical homogeneity of phenylketonuria in PolandJ Jaruzelska, R Matuszak, S Lyonnet, et al.
Developmental Medicine and Child Neurology|August 4, 2004
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria)A Philippe, J Deron, D Geneviève, et al.
The Biochemical Journal|February 28, 1998
Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changesD Chretien, J Gallego, A Barrientos, et al.
Human Molecular Genetics|December 1, 1995
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung diseaseT Attié, M Till, A Pelet, et al.
Nature Genetics|April 1, 1996
XNP mutation in a large family with Juberg-Marsidi syndromeL Villard, J Gecz, J F Mattéi, et al.
Lancet (London, England)|August 1, 1981
Defective biotin absorption in multiple carboxylase deficiencyA Munnich, J M Saudubray, G Carré, et al.
Cytogenetics and Cell Genetics|January 1, 1991
In situ hybridization of two markers closely flanking the spinal muscular atrophy gene to 5q12----q13.3M G Mattei, J Melki, M F Bachelot, et al.
Pageof 58

Showing results (181-190 of 573) with videos related to

Sort By:
Pageof 58
Pediatric Nephrology (Berlin, Germany)|April 1, 1994
Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndromeP Niaudet, L Heidet, A Munnich, et al.
Lancet (London, England)|December 24, 1994
De-novo mutations of the RET proto-oncogene in Hirschsprung's diseaseA Pelet, T Attie, O Goulet, et al.
European Journal of Pediatrics|July 1, 1992
X-linked hydrocephalus: clinical heterogeneity at a single gene locusF Serville, S Lyonnet, A Pelet, et al.
Journal of Medical Genetics|March 1, 1993
Genetic background of clinical homogeneity of phenylketonuria in PolandJ Jaruzelska, R Matuszak, S Lyonnet, et al.
Developmental Medicine and Child Neurology|August 4, 2004
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria)A Philippe, J Deron, D Geneviève, et al.
The Biochemical Journal|February 28, 1998
Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans, and their lack of age-related changesD Chretien, J Gallego, A Barrientos, et al.
Human Molecular Genetics|December 1, 1995
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung diseaseT Attié, M Till, A Pelet, et al.
Nature Genetics|April 1, 1996
XNP mutation in a large family with Juberg-Marsidi syndromeL Villard, J Gecz, J F Mattéi, et al.
Lancet (London, England)|August 1, 1981
Defective biotin absorption in multiple carboxylase deficiencyA Munnich, J M Saudubray, G Carré, et al.
Cytogenetics and Cell Genetics|January 1, 1991
In situ hybridization of two markers closely flanking the spinal muscular atrophy gene to 5q12----q13.3M G Mattei, J Melki, M F Bachelot, et al.
Pageof 58