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A Munnich

Showing results (371-380 of 426) with videos related to

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Clinical Genetics|October 12, 2001
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotypeG Joly, J M Lapierre, C Ozilou, et al.
Clinical Genetics|October 16, 2012
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGHM Rio, G Royer, S Gobin, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndromeS Hadj-Rabia, R Salomon, A Pelet, et al.
Journal of Medical Genetics|November 14, 1997
Severe manifestations in carrier females in X linked retinitis pigmentosaE Souied, B Segues, I Ghazi, et al.
Journal of Medical Genetics|January 16, 1998
Features of DiGeorge syndrome and CHARGE association in five patientsP de Lonlay-Debeney, V Cormier-Daire, J Amiel, et al.
Journal of Medical Genetics|March 8, 2003
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyM Chol, S Lebon, P Bénit, et al.
American Journal of Human Genetics|October 3, 1998
A gene for Meckel syndrome maps to chromosome 11q13J Roume, E Genin, V Cormier-Daire, et al.
European Journal of Medical Genetics|November 26, 2008
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndromeAgnès Atale, Patrizia Bonneau-Amati, Agnès Rötig, et al.
Journal of Medical Genetics|May 13, 2006
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal developmentC Bouchet, J Steffann, J Corcos, et al.
Annales De Biologie Clinique|March 30, 2004
[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]J-M Lapierre, D Sanlaville, J Kang, et al.
Pageof 43

Showing results (371-380 of 426) with videos related to

Sort By:
Pageof 43
Clinical Genetics|October 12, 2001
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotypeG Joly, J M Lapierre, C Ozilou, et al.
Clinical Genetics|October 16, 2012
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGHM Rio, G Royer, S Gobin, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndromeS Hadj-Rabia, R Salomon, A Pelet, et al.
Journal of Medical Genetics|November 14, 1997
Severe manifestations in carrier females in X linked retinitis pigmentosaE Souied, B Segues, I Ghazi, et al.
Journal of Medical Genetics|January 16, 1998
Features of DiGeorge syndrome and CHARGE association in five patientsP de Lonlay-Debeney, V Cormier-Daire, J Amiel, et al.
Journal of Medical Genetics|March 8, 2003
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyM Chol, S Lebon, P Bénit, et al.
American Journal of Human Genetics|October 3, 1998
A gene for Meckel syndrome maps to chromosome 11q13J Roume, E Genin, V Cormier-Daire, et al.
European Journal of Medical Genetics|November 26, 2008
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndromeAgnès Atale, Patrizia Bonneau-Amati, Agnès Rötig, et al.
Journal of Medical Genetics|May 13, 2006
Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal developmentC Bouchet, J Steffann, J Corcos, et al.
Annales De Biologie Clinique|March 30, 2004
[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances]J-M Lapierre, D Sanlaville, J Kang, et al.
Pageof 43