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Yline Capri

Showing results (81-90 of 93) with videos related to

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Journal of Medical Genetics|January 11, 2025
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendationsMédéric Jeanne, Nathalie Ronce, Solène Remizé, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.
NPJ Genomic Medicine|July 10, 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsHenri Margot, Guilaine Boursier, Claire Duflos, et al.
Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
Journal of Medical Genetics|August 1, 2020
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlationsMathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, et al.
NPJ Genomic Medicine|December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.
Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
Pageof 10

Showing results (81-90 of 93) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|January 11, 2025
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendationsMédéric Jeanne, Nathalie Ronce, Solène Remizé, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.
NPJ Genomic Medicine|July 10, 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 1, 2019
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individualsHenri Margot, Guilaine Boursier, Claire Duflos, et al.
Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
Journal of Medical Genetics|August 1, 2020
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlationsMathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, et al.
NPJ Genomic Medicine|December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.
The Journal of Clinical Investigation|November 25, 2025
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveKatrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, et al.
Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
Pageof 10