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Brain : a Journal of Neurology
|
November 30, 2010
Heterozygous OPA1 mutations in Behr syndrome
Cecilia Marelli, Patrizia Amati-Bonneau, Pascal Reynier, et al.
The International Journal of Biochemistry & Cell Biology
|
March 22, 2012
Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function
Arnaud Chevrollier, Julien Cassereau, Marc Ferré, et al.
Human Molecular Genetics
|
February 23, 2023
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure
Liping Huang, Zhongyue Yang, Catherine P Kirschke, et al.
European Journal of Human Genetics : EJHG
|
February 11, 2005
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion
Dominique Brémond-Gignac, John A Crolla, Henri Copin, et al.
Aviation, Space, and Environmental Medicine
|
March 4, 2005
Psychostimulants and G tolerance in rhesus monkeys: effects of oral modafinil and injected caffeine
Geneviève Florence, Laurent Riondet, André Serra, et al.
Journal of Human Genetics
|
November 26, 2005
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
Corinne Stoetzel, Virginie Laurier, Laurence Faivre, et al.
Frontiers in Genetics
|
January 9, 2019
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing
Céline Bris, David Goudenege, Valérie Desquiret-Dumas, et al.
Experimental Neurology
|
September 21, 2010
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations
Julien Cassereau, Arnaud Chevrollier, Naïg Gueguen, et al.
Neurogenetics
|
July 21, 2009
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease
Virginie Guillet, Naïg Gueguen, Christophe Verny, et al.
Human Mutation
|
September 23, 2014
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data
Marc Ferré, Angélique Caignard, Dan Milea, et al.
Page
of 26
Search research articles
Search
Showing results (61-70 of 253) with videos related to
Sort By:
Page
of 26
Brain : a Journal of Neurology
|
November 30, 2010
Heterozygous OPA1 mutations in Behr syndrome
Cecilia Marelli, Patrizia Amati-Bonneau, Pascal Reynier, et al.
The International Journal of Biochemistry & Cell Biology
|
March 22, 2012
Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function
Arnaud Chevrollier, Julien Cassereau, Marc Ferré, et al.
Human Molecular Genetics
|
February 23, 2023
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure
Liping Huang, Zhongyue Yang, Catherine P Kirschke, et al.
European Journal of Human Genetics : EJHG
|
February 11, 2005
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion
Dominique Brémond-Gignac, John A Crolla, Henri Copin, et al.
Aviation, Space, and Environmental Medicine
|
March 4, 2005
Psychostimulants and G tolerance in rhesus monkeys: effects of oral modafinil and injected caffeine
Geneviève Florence, Laurent Riondet, André Serra, et al.
Journal of Human Genetics
|
November 26, 2005
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families
Corinne Stoetzel, Virginie Laurier, Laurence Faivre, et al.
Frontiers in Genetics
|
January 9, 2019
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing
Céline Bris, David Goudenege, Valérie Desquiret-Dumas, et al.
Experimental Neurology
|
September 21, 2010
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations
Julien Cassereau, Arnaud Chevrollier, Naïg Gueguen, et al.
Neurogenetics
|
July 21, 2009
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease
Virginie Guillet, Naïg Gueguen, Christophe Verny, et al.
Human Mutation
|
September 23, 2014
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data
Marc Ferré, Angélique Caignard, Dan Milea, et al.
Page
of 26