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A Munnich

Showing results (221-230 of 426) with videos related to

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Human Genetics|February 1, 1993
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuriaM Weinstein, R C Eisensmith, V Abadie, et al.
Reproductive Biomedicine Online|February 7, 2008
Preimplantation genetic diagnosis for autosomal recessive polycystic kidney diseaseN Gigarel, N Frydman, P Burlet, et al.
Human Molecular Genetics|August 13, 1998
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung diseaseB Doray, R Salomon, J Amiel, et al.
Archives Francaises De Pediatrie|December 1, 1982
[Heterogeneity of leucinosis. Correlations between clinical manifestations, protein tolerance and enzyme deficiency]J M Saudubray, O Amédée-Manesme, A Munnich, et al.
Nature Genetics|April 1, 1996
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)P Edery, T Attié, J Amiel, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Clinical aspects of mitochondrial disordersA Munnich, P Rustin, A Rötig, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 1, 1994
[Sulfite oxidase deficiency presenting as Leigh syndrome]J Amiel, V Gagey, D Rabier, et al.
Journal of Medical Genetics|December 1, 1995
No evidence of genetic heterogeneity in dominant optic atrophyD Bonneau, E Souied, S Gerber, et al.
European Heart Journal|August 26, 1998
Efficiency of metabolic screening in childhood cardiomyopathiesD Bonnet, P de Lonlay, I Gautier, et al.
Neuropediatrics|August 25, 2001
Respiratory chain deficiency in Alpers syndromeM Gauthier-Villars, P Landrieu, V Cormier-Daire, et al.
Pageof 43

Showing results (221-230 of 426) with videos related to

Sort By:
Pageof 43
Human Genetics|February 1, 1993
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuriaM Weinstein, R C Eisensmith, V Abadie, et al.
Reproductive Biomedicine Online|February 7, 2008
Preimplantation genetic diagnosis for autosomal recessive polycystic kidney diseaseN Gigarel, N Frydman, P Burlet, et al.
Human Molecular Genetics|August 13, 1998
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung diseaseB Doray, R Salomon, J Amiel, et al.
Archives Francaises De Pediatrie|December 1, 1982
[Heterogeneity of leucinosis. Correlations between clinical manifestations, protein tolerance and enzyme deficiency]J M Saudubray, O Amédée-Manesme, A Munnich, et al.
Nature Genetics|April 1, 1996
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)P Edery, T Attié, J Amiel, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Clinical aspects of mitochondrial disordersA Munnich, P Rustin, A Rötig, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 1, 1994
[Sulfite oxidase deficiency presenting as Leigh syndrome]J Amiel, V Gagey, D Rabier, et al.
Journal of Medical Genetics|December 1, 1995
No evidence of genetic heterogeneity in dominant optic atrophyD Bonneau, E Souied, S Gerber, et al.
European Heart Journal|August 26, 1998
Efficiency of metabolic screening in childhood cardiomyopathiesD Bonnet, P de Lonlay, I Gautier, et al.
Neuropediatrics|August 25, 2001
Respiratory chain deficiency in Alpers syndromeM Gauthier-Villars, P Landrieu, V Cormier-Daire, et al.
Pageof 43