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A Munnich

Showing results (391-400 of 426) with videos related to

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Nature Genetics|August 31, 2001
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failureP de Lonlay, I Valnot, A Barrientos, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ Amiel, S Audollent, D Joly, et al.
Molecular Genetics and Metabolism|October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiencyN Boddaert, S Romano, B Funalot, et al.
Nature Genetics|August 1, 1993
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10S Lyonnet, A Bolino, A Pelet, et al.
Journal of Medical Genetics|April 16, 1999
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitisC Férec, O Raguénès, R Salomon, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|August 31, 2006
[Preimplantation genetic diagnosis (PGD): results from a Parisian center]E Feyereisen, S Romana, V Kerbrat, et al.
Journal of Medical Genetics|November 6, 2001
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritanceL Faivre, M Le Merrer, C Baumann, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Nature Genetics|December 1, 1996
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisI Perrault, J M Rozet, P Calvas, et al.
Pageof 43

Showing results (391-400 of 426) with videos related to

Sort By:
Pageof 43
Nature Genetics|August 31, 2001
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failureP de Lonlay, I Valnot, A Barrientos, et al.
European Journal of Human Genetics : EJHG|November 28, 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicismJ Amiel, S Audollent, D Joly, et al.
Molecular Genetics and Metabolism|October 24, 2007
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiencyN Boddaert, S Romano, B Funalot, et al.
Nature Genetics|August 1, 1993
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10S Lyonnet, A Bolino, A Pelet, et al.
Journal of Medical Genetics|April 16, 1999
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitisC Férec, O Raguénès, R Salomon, et al.
Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction|August 31, 2006
[Preimplantation genetic diagnosis (PGD): results from a Parisian center]E Feyereisen, S Romana, V Kerbrat, et al.
Journal of Medical Genetics|November 6, 2001
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritanceL Faivre, M Le Merrer, C Baumann, et al.
Journal of Medical Genetics|June 17, 2003
Spectrum of NSD1 mutations in Sotos and Weaver syndromesM Rio, L Clech, J Amiel, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Nature Genetics|December 1, 1996
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisI Perrault, J M Rozet, P Calvas, et al.
Pageof 43