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Christophe Philippe

Showing results (51-60 of 150) with videos related to

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American Journal of Medical Genetics. Part A|January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystoniaMireille Cossée, Laurence Faivre, Christophe Philippe, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndromePhi Yen Vu, Jérôme Toutain, David Cappellen, et al.
Orphanet Journal of Rare Diseases|April 27, 2016
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disordersVeronique Latger-Cannard, Christophe Philippe, Alexandre Bouquet, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 23, 2020
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genesGeoffroy Delplancq, Georges Tarris, Antonio Vitobello, et al.
European Journal of Human Genetics : EJHG|June 25, 2019
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencingAnge-Line Bruel, Sophie Nambot, Virginie Quéré, et al.
Human Mutation|August 6, 2019
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to lightPhilippine Garret, Céline Bris, Vincent Procaccio, et al.
The EMBO Journal|June 3, 2020
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patientsMichele Bertacchi, Anna Lisa Romano, Agnès Loubat, et al.
European Journal of Human Genetics : EJHG|November 30, 2022
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohortPhilippine Garret, Martin Chevarin, Antonio Vitobello, et al.
Molecular Genetics & Genomic Medicine|October 30, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseasesFrederic Tran Mau-Them, Yannis Duffourd, Antonio Vitobello, et al.
American Journal of Medical Genetics. Part A|June 27, 2019
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new casesDaphné Lehalle, Roberto Colombo, Michael O'Grady, et al.
Pageof 15

Showing results (51-60 of 150) with videos related to

Sort By:
Pageof 15
American Journal of Medical Genetics. Part A|January 5, 2011
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystoniaMireille Cossée, Laurence Faivre, Christophe Philippe, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndromePhi Yen Vu, Jérôme Toutain, David Cappellen, et al.
Orphanet Journal of Rare Diseases|April 27, 2016
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disordersVeronique Latger-Cannard, Christophe Philippe, Alexandre Bouquet, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 23, 2020
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genesGeoffroy Delplancq, Georges Tarris, Antonio Vitobello, et al.
European Journal of Human Genetics : EJHG|June 25, 2019
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencingAnge-Line Bruel, Sophie Nambot, Virginie Quéré, et al.
Human Mutation|August 6, 2019
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to lightPhilippine Garret, Céline Bris, Vincent Procaccio, et al.
The EMBO Journal|June 3, 2020
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patientsMichele Bertacchi, Anna Lisa Romano, Agnès Loubat, et al.
European Journal of Human Genetics : EJHG|November 30, 2022
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohortPhilippine Garret, Martin Chevarin, Antonio Vitobello, et al.
Molecular Genetics & Genomic Medicine|October 30, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseasesFrederic Tran Mau-Them, Yannis Duffourd, Antonio Vitobello, et al.
American Journal of Medical Genetics. Part A|June 27, 2019
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new casesDaphné Lehalle, Roberto Colombo, Michael O'Grady, et al.
Pageof 15