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Brain : a Journal of Neurology
|
September 28, 2014
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
Johann Böhm, Valérie Biancalana, Edoardo Malfatti, et al.
Prenatal Diagnosis
|
November 19, 2016
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features
Marguerite Miguet, Julien Thevenon, Vincent Laugel, 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 cases
Martial Mallaret, Mathilde Renaud, Claire Redin, et al.
Clinical Genetics
|
November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
Clarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.
Orphanet Journal of Rare Diseases
|
March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Nadège Calmels, Géraldine Greff, Cathy Obringer, et al.
American Journal of Human Genetics
|
March 21, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, et al.
European Journal of Human Genetics : EJHG
|
February 9, 2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
Angélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, et al.
Neurology
|
January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Agatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, 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 Dysregulation
Chris Balak, Marianne Benard, Elise Schaefer, et al.
Nature Genetics
|
April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Corinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Page
of 23
Search research articles
Search
Showing results (201-210 of 221) with videos related to
Sort By:
Page
of 23
Brain : a Journal of Neurology
|
September 28, 2014
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
Johann Böhm, Valérie Biancalana, Edoardo Malfatti, et al.
Prenatal Diagnosis
|
November 19, 2016
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features
Marguerite Miguet, Julien Thevenon, Vincent Laugel, 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 cases
Martial Mallaret, Mathilde Renaud, Claire Redin, et al.
Clinical Genetics
|
November 10, 2020
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
Clarisse Delvallée, Samuel Nicaise, Manuela Antin, et al.
Orphanet Journal of Rare Diseases
|
March 24, 2016
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Nadège Calmels, Géraldine Greff, Cathy Obringer, et al.
American Journal of Human Genetics
|
March 21, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, et al.
European Journal of Human Genetics : EJHG
|
February 9, 2017
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
Angélique Quartier, Hélène Poquet, Brigitte Gilbert-Dussardier, et al.
Neurology
|
January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Agatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, 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 Dysregulation
Chris Balak, Marianne Benard, Elise Schaefer, et al.
Nature Genetics
|
April 4, 2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Corinne Stoetzel, Virginie Laurier, Erica E Davis, et al.
Page
of 23