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Jean Muller

Showing results (91-100 of 103) with videos related to

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Human Molecular Genetics|June 2, 2012
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspotsElias Elinati, Paul Kuentz, Claire Redin, et al.
Frontiers in Genetics|April 21, 2022
The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study ProtocolCatherine Lejeune, Charley Robert-Viard, Nicolas Meunier-Beillard, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
Human Molecular Genetics|February 12, 2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaMathilde Huckert, Corinne Stoetzel, Supawich Morkmued, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.
Frontiers in Genetics|May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsManon Chretien, Julien Osouf, Carine Abel, et al.
Journal of Medical Genetics|August 30, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingClaire Redin, Bénédicte Gérard, Julia Lauer, et al.
Cell Genomics|November 25, 2021
The Data Use Ontology to streamline responsible access to human biomedical datasetsJonathan Lawson, Moran N Cabili, Giselle Kerry, et al.
Science (New York, N.Y.)|February 5, 2011
The ecoresponsive genome of Daphnia pulexJohn K Colbourne, Michael E Pfrender, Donald Gilbert, et al.
Pageof 11

Showing results (91-100 of 103) with videos related to

Sort By:
Pageof 11
Human Molecular Genetics|June 2, 2012
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspotsElias Elinati, Paul Kuentz, Claire Redin, et al.
Frontiers in Genetics|April 21, 2022
The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study ProtocolCatherine Lejeune, Charley Robert-Viard, Nicolas Meunier-Beillard, et al.
American Journal of Human Genetics|August 20, 2019
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA DysregulationChris Balak, Marianne Benard, Elise Schaefer, et al.
Human Molecular Genetics|February 12, 2015
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaMathilde Huckert, Corinne Stoetzel, Supawich Morkmued, et al.
Nature Genetics|April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locusCorinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.
Frontiers in Genetics|May 26, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indicationsManon Chretien, Julien Osouf, Carine Abel, et al.
Journal of Medical Genetics|August 30, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingClaire Redin, Bénédicte Gérard, Julia Lauer, et al.
Cell Genomics|November 25, 2021
The Data Use Ontology to streamline responsible access to human biomedical datasetsJonathan Lawson, Moran N Cabili, Giselle Kerry, et al.
Science (New York, N.Y.)|February 5, 2011
The ecoresponsive genome of Daphnia pulexJohn K Colbourne, Michael E Pfrender, Donald Gilbert, et al.
Pageof 11