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Genome Biology
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June 25, 2025
Mapping MAVE data for use in human genomics applications
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
American Journal of Human Genetics
|
September 3, 2021
Response to Biesecker et al
Ada Hamosh, Joanna S Amberger, Carol A Bocchini, et al.
American Journal of Human Genetics
|
December 31, 2005
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
Dorien Lugtenberg, Helger G Yntema, Martijn J G Banning, et al.
The New England Journal of Medicine
|
April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Nucleic Acids Research
|
November 28, 2024
EMBL's European Bioinformatics Institute (EMBL-EBI) in 2024
Matthew Thakur, Catherine Brooksbank, Robert D Finn, et al.
Journal of Medical Genetics
|
October 13, 2017
Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability
Mark J Hamilton, Richard C Caswell, Natalie Canham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Human Mutation
|
July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome
Morad Ansari, Mihail Halachev, David Parry, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Nature Reviews. Genetics
|
April 23, 2020
A framework for an evidence-based gene list relevant to autism spectrum disorder
Christian P Schaaf, Catalina Betancur, Ryan K C Yuen, et al.
Page
of 12
Search research articles
Search
Showing results (81-90 of 116) with videos related to
Sort By:
Page
of 12
Genome Biology
|
June 25, 2025
Mapping MAVE data for use in human genomics applications
Jeremy A Arbesfeld, Estelle Y Da, James S Stevenson, et al.
American Journal of Human Genetics
|
September 3, 2021
Response to Biesecker et al
Ada Hamosh, Joanna S Amberger, Carol A Bocchini, et al.
American Journal of Human Genetics
|
December 31, 2005
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
Dorien Lugtenberg, Helger G Yntema, Martijn J G Banning, et al.
The New England Journal of Medicine
|
April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Nucleic Acids Research
|
November 28, 2024
EMBL's European Bioinformatics Institute (EMBL-EBI) in 2024
Matthew Thakur, Catherine Brooksbank, Robert D Finn, et al.
Journal of Medical Genetics
|
October 13, 2017
Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability
Mark J Hamilton, Richard C Caswell, Natalie Canham, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Human Mutation
|
July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome
Morad Ansari, Mihail Halachev, David Parry, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Nature Reviews. Genetics
|
April 23, 2020
A framework for an evidence-based gene list relevant to autism spectrum disorder
Christian P Schaaf, Catalina Betancur, Ryan K C Yuen, et al.
Page
of 12