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Human Mutation
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April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
The Journal of Clinical Investigation
|
February 16, 2023
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans
Sally C Fletcher, Charlotte Hall, Tristan J Kennedy, et al.
American Journal of Human Genetics
|
March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
Susan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.
Journal of Neuromuscular Diseases
|
June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Justyne E Ross, May Flowers, Shannon McNulty, et al.
Genome Medicine
|
October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Francisco M De La Vega, Shimul Chowdhury, Barry Moore, et al.
Journal of Inherited Metabolic Disease
|
February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
Mari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
American Journal of Human Genetics
|
November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Orphanet Journal of Rare Diseases
|
January 15, 2021
Exome sequencing in paediatric patients with movement disorders
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, et al.
Science Advances
|
February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
David B Beck, Mohammed A Basar, Anthony J Asmar, et al.
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of 9
Search research articles
Search
Showing results (51-60 of 81) with videos related to
Sort By:
Page
of 9
Human Mutation
|
April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG
Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
The Journal of Clinical Investigation
|
February 16, 2023
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans
Sally C Fletcher, Charlotte Hall, Tristan J Kennedy, et al.
American Journal of Human Genetics
|
March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
Susan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.
Journal of Neuromuscular Diseases
|
June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Justyne E Ross, May Flowers, Shannon McNulty, et al.
Genome Medicine
|
October 14, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Francisco M De La Vega, Shimul Chowdhury, Barry Moore, et al.
Journal of Inherited Metabolic Disease
|
February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
Mari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
American Journal of Human Genetics
|
November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Orphanet Journal of Rare Diseases
|
January 15, 2021
Exome sequencing in paediatric patients with movement disorders
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, et al.
Science Advances
|
February 1, 2021
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
David B Beck, Mohammed A Basar, Anthony J Asmar, et al.
Page
of 9