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Showing results (21-30 of 30) with videos related to

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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|November 3, 2006
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome familiesC Bouchet, S Vuillaumier-Barrot, M Gonzales, et al.
Fetal Diagnosis and Therapy|March 16, 2007
De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocationA Delahaye, E Pipiras, S Kanafani, et al.
Journal of Medical Genetics|December 10, 1997
Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephalyB Benzacken, J P Siffroi, C Le Bourhis, et al.
European Journal of Medical Genetics|July 29, 2009
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal casesB Bessières-Grattagliano, B Foliguet, L Devisme, et al.
American Journal of Human Genetics|April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brainR L Touraine, T Attié-Bitach, E Manceau, et al.
Neuromuscular Disorders : NMD|July 6, 2011
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathiesS Vuillaumier-Barrot, C Bouchet-Seraphin, M Chelbi, et al.
Clinical Genetics|October 6, 2012
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairmentC Thauvin-Robinet, S Thomas, M Sinico, et al.
Journal of Medical Genetics|September 20, 2005
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmentD Sanlaville, H C Etchevers, M Gonzales, et al.
Human Mutation|June 15, 2007
Molecular heterogeneity in fetal forms of type II lissencephalyC Bouchet, M Gonzales, S Vuillaumier-Barrot, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
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|November 3, 2006
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome familiesC Bouchet, S Vuillaumier-Barrot, M Gonzales, et al.
Fetal Diagnosis and Therapy|March 16, 2007
De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocationA Delahaye, E Pipiras, S Kanafani, et al.
Journal of Medical Genetics|December 10, 1997
Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephalyB Benzacken, J P Siffroi, C Le Bourhis, et al.
European Journal of Medical Genetics|July 29, 2009
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal casesB Bessières-Grattagliano, B Foliguet, L Devisme, et al.
American Journal of Human Genetics|April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brainR L Touraine, T Attié-Bitach, E Manceau, et al.
Neuromuscular Disorders : NMD|July 6, 2011
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathiesS Vuillaumier-Barrot, C Bouchet-Seraphin, M Chelbi, et al.
Clinical Genetics|October 6, 2012
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairmentC Thauvin-Robinet, S Thomas, M Sinico, et al.
Journal of Medical Genetics|September 20, 2005
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmentD Sanlaville, H C Etchevers, M Gonzales, et al.
Human Mutation|June 15, 2007
Molecular heterogeneity in fetal forms of type II lissencephalyC Bouchet, M Gonzales, S Vuillaumier-Barrot, et al.
Pageof 3