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Michel Koenig

Showing results (41-50 of 126) with videos related to

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BMC Medical Genetics|June 13, 2015
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxiaWahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, et al.
Diagnostics (Basel, Switzerland)|January 21, 2022
Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing LossLuke Mansard, Christel Vaché, Julie Bianchi, et al.
European Journal of Medical Genetics|March 14, 2018
Pitfalls in molecular diagnosis of Friedreich ataxiaGiulia Barcia, Myriam Rachid, Maryse Magen, et al.
Journal of the Neurological Sciences|June 1, 2002
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan familiesAli Benomar, Mohammed Yahyaoui, Farid Meggouh, et al.
Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.
Human Molecular Genetics|September 11, 2014
Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndromeClaire Guissart, Xiuju Li, Bruno Leheup, et al.
International Journal of Molecular Sciences|April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical LaboratoriesKevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
Brain : a Journal of Neurology|January 26, 2006
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3Stephan Klebe, Hamid Azzedine, Alexandra Durr, et al.
Annals of Neurology|October 24, 2017
A recessive ataxia diagnosis algorithm for the next generation sequencing eraMathilde Renaud, Christine Tranchant, Juan Vicente Torres Martin, et al.
European Journal of Human Genetics : EJHG|July 16, 2024
Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical reportQuentin Sabbagh, Marion Larrieux, Anouck Schneider, et al.
Pageof 13

Showing results (41-50 of 126) with videos related to

Sort By:
Pageof 13
BMC Medical Genetics|June 13, 2015
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxiaWahiba Hamza, Lamia Ali Pacha, Tarik Hamadouche, et al.
Diagnostics (Basel, Switzerland)|January 21, 2022
Identification of the First Single <i>GSDME</i> Exon 8 Structural Variants Associated with Autosomal Dominant Hearing LossLuke Mansard, Christel Vaché, Julie Bianchi, et al.
European Journal of Medical Genetics|March 14, 2018
Pitfalls in molecular diagnosis of Friedreich ataxiaGiulia Barcia, Myriam Rachid, Maryse Magen, et al.
Journal of the Neurological Sciences|June 1, 2002
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan familiesAli Benomar, Mohammed Yahyaoui, Farid Meggouh, et al.
Human Mutation|November 2, 2019
The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disordersSouphatta Sasorith, David Baux, Anne Bergougnoux, et al.
Human Molecular Genetics|September 11, 2014
Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndromeClaire Guissart, Xiuju Li, Bruno Leheup, et al.
International Journal of Molecular Sciences|April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical LaboratoriesKevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
Brain : a Journal of Neurology|January 26, 2006
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3Stephan Klebe, Hamid Azzedine, Alexandra Durr, et al.
Annals of Neurology|October 24, 2017
A recessive ataxia diagnosis algorithm for the next generation sequencing eraMathilde Renaud, Christine Tranchant, Juan Vicente Torres Martin, et al.
European Journal of Human Genetics : EJHG|July 16, 2024
Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical reportQuentin Sabbagh, Marion Larrieux, Anouck Schneider, et al.
Pageof 13