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Christophe Philippe

Showing results (71-80 of 150) with videos related to

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Human Mutation|April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebaseSylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
Annals of Human Genetics|February 10, 2022
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGHEmilie Tisserant, Antonio Vitobello, Davide Callegarin, et al.
Cell Genomics|December 20, 2023
The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disordersNis Borbye-Lorenzen, Zhihong Zhu, Esben Agerbo, et al.
European Journal of Human Genetics : EJHG|December 5, 2013
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 geneEmilie Degrolard-Courcet, Joanna Sokolowska, Marie-Martine Padeano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSophie Nambot, Julien Thevenon, Paul Kuentz, et al.
Clinical Genetics|April 13, 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureVirginie Carmignac, Sophie Nambot, Daphné Lehalle, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Pageof 15

Showing results (71-80 of 150) with videos related to

Sort By:
Pageof 15
Human Mutation|April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebaseSylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
Annals of Human Genetics|February 10, 2022
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGHEmilie Tisserant, Antonio Vitobello, Davide Callegarin, et al.
Cell Genomics|December 20, 2023
The correlates of neonatal complement component 3 and 4 protein concentrations with a focus on psychiatric and autoimmune disordersNis Borbye-Lorenzen, Zhihong Zhu, Esben Agerbo, et al.
European Journal of Human Genetics : EJHG|December 5, 2013
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 geneEmilie Degrolard-Courcet, Joanna Sokolowska, Marie-Martine Padeano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSophie Nambot, Julien Thevenon, Paul Kuentz, et al.
Clinical Genetics|April 13, 2020
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literatureVirginie Carmignac, Sophie Nambot, Daphné Lehalle, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Pageof 15