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Frontiers in Cell and Developmental Biology
|
November 17, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
Estelle Colin, Yannis Duffourd, Emilie Tisserant, et al.
European Journal of Neurology
|
July 31, 2025
The Two Faces of Pediatric SCA2
Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
Brain : a Journal of Neurology
|
September 4, 2025
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies
Delphine Héron, Anna Gerasimenko, Lisa Frugère, et al.
Genes
|
September 28, 2023
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review
Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, et al.
Clinical Genetics
|
January 8, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
Aurore Garde, Laurent Guibaud, Alice Goldenberg, et al.
Brain : a Journal of Neurology
|
May 21, 2013
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
Susan J Hayflick, Michael C Kruer, Allison Gregory, et al.
Nature Communications
|
November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Elsa Leitão, Christopher Schröder, Ilaria Parenti, et al.
Journal of Medical Genetics
|
June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
NPJ Genomic Medicine
|
November 9, 2021
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Michael A Levy, David B Beck, Kay Metcalfe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2022
Highlighting the Dystonic Phenotype Related to GNAO1
Thomas Wirth, Giacomo Garone, Manju A Kurian, et al.
Page
of 22
Search research articles
Search
Showing results (121-130 of 216) with videos related to
Sort By:
Page
of 22
Frontiers in Cell and Developmental Biology
|
November 17, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
Estelle Colin, Yannis Duffourd, Emilie Tisserant, et al.
European Journal of Neurology
|
July 31, 2025
The Two Faces of Pediatric SCA2
Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
Brain : a Journal of Neurology
|
September 4, 2025
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies
Delphine Héron, Anna Gerasimenko, Lisa Frugère, et al.
Genes
|
September 28, 2023
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review
Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, et al.
Clinical Genetics
|
January 8, 2021
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
Aurore Garde, Laurent Guibaud, Alice Goldenberg, et al.
Brain : a Journal of Neurology
|
May 21, 2013
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
Susan J Hayflick, Michael C Kruer, Allison Gregory, et al.
Nature Communications
|
November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Elsa Leitão, Christopher Schröder, Ilaria Parenti, et al.
Journal of Medical Genetics
|
June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
NPJ Genomic Medicine
|
November 9, 2021
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Michael A Levy, David B Beck, Kay Metcalfe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2022
Highlighting the Dystonic Phenotype Related to GNAO1
Thomas Wirth, Giacomo Garone, Manju A Kurian, et al.
Page
of 22