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Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
December 18, 2018
A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene
Lars R Jensen, Lillian Garrett, Sabine M Hölter, et al.
Genetics in Medicine Open
|
December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
Rachel Austin, Jaye S Brown, Sarah Casauria, et al.
American Journal of Human Genetics
|
May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly
Robin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
American Journal of Human Genetics
|
March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
American Journal of Human Genetics
|
January 25, 2024
Role of CAMK2D in neurodevelopment and associated conditions
Pomme M F Rigter, Charlotte de Konink, Matthew J Dunn, et al.
Neurology
|
February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
American Journal of Human Genetics
|
July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
Zornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Eline A Verberne, Shuxiang Goh, Jade England, et al.
Nature Medicine
|
June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
American Journal of Human Genetics
|
April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Kelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
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of 24
Search research articles
Search
Showing results (201-210 of 240) with videos related to
Sort By:
Page
of 24
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
December 18, 2018
A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene
Lars R Jensen, Lillian Garrett, Sabine M Hölter, et al.
Genetics in Medicine Open
|
December 13, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
Rachel Austin, Jaye S Brown, Sarah Casauria, et al.
American Journal of Human Genetics
|
May 21, 2026
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly
Robin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
American Journal of Human Genetics
|
March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
American Journal of Human Genetics
|
January 25, 2024
Role of CAMK2D in neurodevelopment and associated conditions
Pomme M F Rigter, Charlotte de Konink, Matthew J Dunn, et al.
Neurology
|
February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
American Journal of Human Genetics
|
July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
Zornitza Stark, Rebecca E Foulger, Eleanor Williams, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Eline A Verberne, Shuxiang Goh, Jade England, et al.
Nature Medicine
|
June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
American Journal of Human Genetics
|
April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Kelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Page
of 24