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A Munnich

Showing results (341-350 of 426) with videos related to

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Genomics|May 1, 1994
An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophyC Mérette, L M Brzustowicz, R J Daniels, et al.
Journal of Medical Genetics|September 13, 2005
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosisJ Steffann, N Frydman, N Gigarel, et al.
European Journal of Pediatrics|December 1, 1990
The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic statesJ P Bonnefont, N B Specola, A Vassault, et al.
Journal of Medical Genetics|June 5, 2007
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndromeJ Steffann, N Gigarel, J Corcos, et al.
Molecular Genetics and Metabolism|April 28, 2009
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndromeN Brahimi, M Jambou, E Sarzi, et al.
Neurogastroenterology and Motility|October 1, 2010
Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstructionL Galmiche, F Jaubert, F Sauvat, et al.
Prenatal Diagnosis|October 4, 2000
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiencyL Faivre, V Cormier-Daire, D Chrétien, et al.
Human Molecular Genetics|March 1, 1996
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ Amiel, T Attié, D Jan, et al.
The Journal of Clinical Investigation|March 11, 2000
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)A Raas-Rothschild, V Cormier-Daire, M Bao, et al.
Human Genetics|January 5, 2007
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34B Isidor, N Dagoneau, C Huber, et al.
Pageof 43

Showing results (341-350 of 426) with videos related to

Sort By:
Pageof 43
Genomics|May 1, 1994
An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophyC Mérette, L M Brzustowicz, R J Daniels, et al.
Journal of Medical Genetics|September 13, 2005
Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosisJ Steffann, N Frydman, N Gigarel, et al.
European Journal of Pediatrics|December 1, 1990
The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic statesJ P Bonnefont, N B Specola, A Vassault, et al.
Journal of Medical Genetics|June 5, 2007
Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndromeJ Steffann, N Gigarel, J Corcos, et al.
Molecular Genetics and Metabolism|April 28, 2009
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndromeN Brahimi, M Jambou, E Sarzi, et al.
Neurogastroenterology and Motility|October 1, 2010
Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstructionL Galmiche, F Jaubert, F Sauvat, et al.
Prenatal Diagnosis|October 4, 2000
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiencyL Faivre, V Cormier-Daire, D Chrétien, et al.
Human Molecular Genetics|March 1, 1996
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung diseaseJ Amiel, T Attié, D Jan, et al.
The Journal of Clinical Investigation|March 11, 2000
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)A Raas-Rothschild, V Cormier-Daire, M Bao, et al.
Human Genetics|January 5, 2007
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34B Isidor, N Dagoneau, C Huber, et al.
Pageof 43