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Dominique Martin

Showing results (61-70 of 77) with videos related to

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Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patientsMarie Vincent, David Geneviève, Agnès Ostertag, 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.
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.
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.
Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.
American Journal of Human Genetics|May 23, 2020
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and OsteochondromasDara Tolchin, Jessica P Yeager, Priya Prasad, et al.
Pageof 8

Showing results (61-70 of 77) with videos related to

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Pageof 8
Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variantsLucilla Pizzo, Matthew Jensen, Andrew Polyak, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patientsMarie Vincent, David Geneviève, Agnès Ostertag, 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.
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.
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.
Neuron|March 6, 2020
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical DevelopmentAshley L Lennox, Mariah L Hoye, Ruiji Jiang, et al.
American Journal of Human Genetics|May 23, 2020
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and OsteochondromasDara Tolchin, Jessica P Yeager, Priya Prasad, et al.
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