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Jean Muller

Showing results (71-80 of 103) with videos related to

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Clinical Obesity|July 31, 2025
IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & EvidenceKarine Clément, Erica L T van den Akker, Jesús Argente, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, et al.
Hydrobiologia|June 16, 2023
From ecological functions to ecosystem services: linking coastal lagoons biodiversity with human well-beingJorge L Rodrigues-Filho, Rafael L Macêdo, Hugo Sarmento, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognitionAmélie Piton, Hélène Poquet, Claire Redin, et al.
Clinical Genetics|April 23, 2021
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotypeSalima El Chehadeh, Anne Legrand, Corinne Stoetzel, et al.
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.
Molecular Metabolism|May 23, 2018
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disabilityLouise Montagne, Mehdi Derhourhi, Amélie Piton, et al.
Human Mutation|April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
Pageof 11

Showing results (71-80 of 103) with videos related to

Sort By:
Pageof 11
Clinical Obesity|July 31, 2025
IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & EvidenceKarine Clément, Erica L T van den Akker, Jesús Argente, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, et al.
Hydrobiologia|June 16, 2023
From ecological functions to ecosystem services: linking coastal lagoons biodiversity with human well-beingJorge L Rodrigues-Filho, Rafael L Macêdo, Hugo Sarmento, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognitionAmélie Piton, Hélène Poquet, Claire Redin, et al.
Clinical Genetics|April 23, 2021
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotypeSalima El Chehadeh, Anne Legrand, Corinne Stoetzel, et al.
American Journal of Human Genetics|December 13, 2006
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndromeCorinne Stoetzel, Jean Muller, Virginie Laurier, et al.
Molecular Metabolism|May 23, 2018
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disabilityLouise Montagne, Mehdi Derhourhi, Amélie Piton, et al.
Human Mutation|April 25, 2018
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, et al.
Journal of Neurology|May 5, 2016
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesMartial Mallaret, Mathilde Renaud, Claire Redin, et al.
Pageof 11