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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 28, 2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, et al.
European Journal of Human Genetics : EJHG
|
May 22, 2024
Comparison of the ABC and ACMG systems for variant classification
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
Katrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Frontiers in Cell and Developmental Biology
|
December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disorders
Ilaria Parenti, Elsa Leitão, Alma Kuechler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Science Advances
|
August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Xiangbin Jia, Shujie Zhang, Senwei Tan, et al.
American Journal of Human Genetics
|
March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
Annals of Neurology
|
June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Clara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disorders
Clara Houdayer, A Marie Phillips, Marie Chabbert, et al.
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Showing results (61-70 of 92) with videos related to
Sort By:
Page
of 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 28, 2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, et al.
European Journal of Human Genetics : EJHG
|
May 22, 2024
Comparison of the ABC and ACMG systems for variant classification
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 18, 2019
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations
Katrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Frontiers in Cell and Developmental Biology
|
December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disorders
Ilaria Parenti, Elsa Leitão, Alma Kuechler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 8, 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
Karin Weiss, Hayley P Lazar, Alina Kurolap, et al.
Science Advances
|
August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Xiangbin Jia, Shujie Zhang, Senwei Tan, et al.
American Journal of Human Genetics
|
March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
Annals of Neurology
|
June 5, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Clara Houdayer, A Marie Phillips, Marie Chabbert, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 2, 2024
Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disorders
Clara Houdayer, A Marie Phillips, Marie Chabbert, et al.
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of 10