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Annals of Neurology
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August 22, 2023
GABRA1-Related Disorders: From Genetic to Functional Pathways
Elisa Musto, Vivian W Y Liao, Katrine M Johannesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variants
David Curtis, Xiaonan Zhao, Nichole M Owen, et al.
American Journal of Human Genetics
|
December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
Clare V Logan, Jennie E Murray, David A Parry, et al.
American Journal of Medical Genetics. Part A
|
September 22, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
Mary R Sy, Jaynee Chauhan, Katrina Prescott, et al.
NPJ Genomic Medicine
|
March 27, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, et al.
Clinical Genetics
|
February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Human Mutation
|
October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Lijia Huang, Megan R Vanstone, Taila Hartley, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
European Journal of Human Genetics : EJHG
|
March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
Human Mutation
|
March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
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Search research articles
Search
Showing results (101-110 of 121) with videos related to
Sort By:
Page
of 13
Annals of Neurology
|
August 22, 2023
GABRA1-Related Disorders: From Genetic to Functional Pathways
Elisa Musto, Vivian W Y Liao, Katrine M Johannesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variants
David Curtis, Xiaonan Zhao, Nichole M Owen, et al.
American Journal of Human Genetics
|
December 4, 2018
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
Clare V Logan, Jennie E Murray, David A Parry, et al.
American Journal of Medical Genetics. Part A
|
September 22, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
Mary R Sy, Jaynee Chauhan, Katrina Prescott, et al.
NPJ Genomic Medicine
|
March 27, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, et al.
Clinical Genetics
|
February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Human Mutation
|
October 29, 2015
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Lijia Huang, Megan R Vanstone, Taila Hartley, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
European Journal of Human Genetics : EJHG
|
March 5, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, et al.
Human Mutation
|
March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
Page
of 13