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Journal of Neuromuscular Diseases
|
May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Dineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
American Journal of Human Genetics
|
January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
Nataliya Di Donato, , Andrew Thom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra Syndrome
Arianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
American Journal of Human Genetics
|
June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
Shannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
BMC Medical Education
|
June 20, 2023
Towards a global partnership model in interprofessional education for cross-sector problem-solving
Fraide Ganotice, Binbin Zheng, Pauline Yeung Ng, et al.
Orphanet Journal of Rare Diseases
|
March 1, 2023
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
Tsz-Sum Wong, Kiran M Belaramani, Chun-Kong Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Thomas Minten, Sarah Bick, Sophia Adelson, et al.
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Search research articles
Search
Showing results (51-60 of 58) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 58 results.
Journal of Neuromuscular Diseases
|
May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Dineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
American Journal of Human Genetics
|
January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
Nataliya Di Donato, , Andrew Thom, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra Syndrome
Arianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
American Journal of Human Genetics
|
June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
Shannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
American Journal of Human Genetics
|
January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
BMC Medical Education
|
June 20, 2023
Towards a global partnership model in interprofessional education for cross-sector problem-solving
Fraide Ganotice, Binbin Zheng, Pauline Yeung Ng, et al.
Orphanet Journal of Rare Diseases
|
March 1, 2023
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
Tsz-Sum Wong, Kiran M Belaramani, Chun-Kong Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Thomas Minten, Sarah Bick, Sophia Adelson, et al.
Page
of 6