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Jean Muller

Showing results (51-60 of 103) with videos related to

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Human Mutation|April 8, 2015
Alström Syndrome: Mutation Spectrum of ALMS1Jan D Marshall, Jean Muller, Gayle B Collin, et al.
Human Mutation|April 14, 2025
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected CiliopathyAurélie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, et al.
American Journal of Human Genetics|March 15, 2011
DPY19L2 deletion as a major cause of globozoospermiaIsabelle Koscinski, Elias Elinati, Camille Fossard, et al.
Nucleic Acids Research|June 26, 2003
PipeAlign: A new toolkit for protein family analysisFrédéric Plewniak, Laurent Bianchetti, Yann Brelivet, et al.
European Journal of Human Genetics : EJHG|July 11, 2006
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelismVirginie Laurier, Corinne Stoetzel, Jean Muller, et al.
Diabetes Care|September 18, 2013
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencingAmélie Bonnefond, Julien Philippe, Emmanuelle Durand, et al.
Human Mutation|May 23, 2019
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathySophie Scheidecker, Séverine Bär, Corinne Stoetzel, et al.
Human Mutation|September 25, 2019
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafishAlejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, et al.
Clinical Genetics|May 4, 2020
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3Aurélie Gouronc, Vincent Zilliox, Marie-Line Jacquemont, et al.
Acta Neuropathologica|April 25, 2012
Next generation sequencing for molecular diagnosis of neuromuscular diseasesNasim Vasli, Johann Böhm, Stéphanie Le Gras, et al.
Pageof 11

Showing results (51-60 of 103) with videos related to

Sort By:
Pageof 11
Human Mutation|April 8, 2015
Alström Syndrome: Mutation Spectrum of ALMS1Jan D Marshall, Jean Muller, Gayle B Collin, et al.
Human Mutation|April 14, 2025
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected CiliopathyAurélie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, et al.
American Journal of Human Genetics|March 15, 2011
DPY19L2 deletion as a major cause of globozoospermiaIsabelle Koscinski, Elias Elinati, Camille Fossard, et al.
Nucleic Acids Research|June 26, 2003
PipeAlign: A new toolkit for protein family analysisFrédéric Plewniak, Laurent Bianchetti, Yann Brelivet, et al.
European Journal of Human Genetics : EJHG|July 11, 2006
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelismVirginie Laurier, Corinne Stoetzel, Jean Muller, et al.
Diabetes Care|September 18, 2013
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencingAmélie Bonnefond, Julien Philippe, Emmanuelle Durand, et al.
Human Mutation|May 23, 2019
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathySophie Scheidecker, Séverine Bär, Corinne Stoetzel, et al.
Human Mutation|September 25, 2019
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafishAlejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, et al.
Clinical Genetics|May 4, 2020
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3Aurélie Gouronc, Vincent Zilliox, Marie-Line Jacquemont, et al.
Acta Neuropathologica|April 25, 2012
Next generation sequencing for molecular diagnosis of neuromuscular diseasesNasim Vasli, Johann Böhm, Stéphanie Le Gras, et al.
Pageof 11