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American Journal of Human Genetics
|
August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
Mari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
The New England Journal of Medicine
|
October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA Gene
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Clinical Immunology (Orlando, Fla.)
|
September 23, 2023
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
Friedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, et al.
American Journal of Human Genetics
|
October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Cedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
American Journal of Medical Genetics. Part A
|
October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
Guillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
The Journal of Clinical Endocrinology and Metabolism
|
April 17, 2018
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome
Sophie Geoffron, Walid Abi Habib, Sandra Chantot-Bastaraud, et al.
European Journal of Human Genetics : EJHG
|
March 12, 2015
Redefining the MED13L syndrome
Abidemi Adegbola, Luciana Musante, Bert Callewaert, et al.
Biological Psychiatry
|
January 9, 2016
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition
Loyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
July 24, 2023
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
Luisa Marsili, Freyja H M van Lint, Francesco Russo, et al.
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of 37
Search research articles
Search
Showing results (181-190 of 365) with videos related to
Sort By:
Page
of 37
American Journal of Human Genetics
|
August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
Mari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
Auriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
The New England Journal of Medicine
|
October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA Gene
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Clinical Immunology (Orlando, Fla.)
|
September 23, 2023
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
Friedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, et al.
American Journal of Human Genetics
|
October 22, 2019
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Cedric Le Caignec, Benjamin Ory, François Lamoureux, et al.
American Journal of Medical Genetics. Part A
|
October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome
Guillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
The Journal of Clinical Endocrinology and Metabolism
|
April 17, 2018
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome
Sophie Geoffron, Walid Abi Habib, Sandra Chantot-Bastaraud, et al.
European Journal of Human Genetics : EJHG
|
March 12, 2015
Redefining the MED13L syndrome
Abidemi Adegbola, Luciana Musante, Bert Callewaert, et al.
Biological Psychiatry
|
January 9, 2016
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition
Loyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|
July 24, 2023
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset
Luisa Marsili, Freyja H M van Lint, Francesco Russo, et al.
Page
of 37