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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2024
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
Sadegheh Haghshenas, Audrey Putoux, Jack Reilly, et al.
BMC Medical Genomics
|
July 11, 2019
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, et al.
European Journal of Human Genetics : EJHG
|
November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 21, 2022
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine
Kevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, et al.
International Journal of Molecular Sciences
|
February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related Syndrome
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.
The Journal of Allergy and Clinical Immunology
|
December 26, 2025
Somatic STAT5B<sup>N642H</sup> mutations shape variable immune landscapes resulting in heterogenous immune diseases
Sarah Grün, Anne Rensing-Ehl, Tobias Suske, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndrome
Florian Cherik, Jack Reilly, Jennifer Kerkhof, et al.
American Journal of Human Genetics
|
October 5, 2019
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Andrea Accogli, Sara Calabretta, Judith St-Onge, et al.
European Journal of Medical Genetics
|
January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients
Clémence Vanlerberghe, Florence Petit, Valérie Malan, et al.
American Journal of Human Genetics
|
July 31, 2024
RNA variant assessment using transactivation and transdifferentiation
Emmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
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Showing results (21-30 of 51) with videos related to
Sort By:
Page
of 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2024
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
Sadegheh Haghshenas, Audrey Putoux, Jack Reilly, et al.
BMC Medical Genomics
|
July 11, 2019
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, et al.
European Journal of Human Genetics : EJHG
|
November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 21, 2022
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine
Kevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, et al.
International Journal of Molecular Sciences
|
February 15, 2022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related Syndrome
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, et al.
The Journal of Allergy and Clinical Immunology
|
December 26, 2025
Somatic STAT5B<sup>N642H</sup> mutations shape variable immune landscapes resulting in heterogenous immune diseases
Sarah Grün, Anne Rensing-Ehl, Tobias Suske, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 14, 2022
DNA methylation episignature in Gabriele-de Vries syndrome
Florian Cherik, Jack Reilly, Jennifer Kerkhof, et al.
American Journal of Human Genetics
|
October 5, 2019
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Andrea Accogli, Sara Calabretta, Judith St-Onge, et al.
European Journal of Medical Genetics
|
January 18, 2015
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients
Clémence Vanlerberghe, Florence Petit, Valérie Malan, et al.
American Journal of Human Genetics
|
July 31, 2024
RNA variant assessment using transactivation and transdifferentiation
Emmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
Page
of 6