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Journal of Medical Genetics
|
October 16, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
Gina Ravenscroft, Joshua S Clayton, Fathimath Faiz, et al.
Cell Death & Disease
|
June 22, 2026
Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model
Jarmon G Lees, Haoxiang Zhang, Lebei Jiao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
Alison Yeung, Natalie B Tan, Tiong Y Tan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery
Anthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
BMJ Open
|
June 16, 2026
Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol
Janet C Long, Alison D Archibald, Klay Lamprell, et al.
Neurology
|
April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Journal of Medical Genetics
|
May 11, 2010
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
Damien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 29, 2022
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia
Thiago J R Rezende, Isaac M Adanyeguh, Filippo Arrigoni, et al.
Orphanet Journal of Rare Diseases
|
August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
Mathew Wallis, Simon D Bodek, Jacob Munro, et al.
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.
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of 6
Search research articles
Search
Showing results (41-50 of 57) with videos related to
Sort By:
Page
of 6
Journal of Medical Genetics
|
October 16, 2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
Gina Ravenscroft, Joshua S Clayton, Fathimath Faiz, et al.
Cell Death & Disease
|
June 22, 2026
Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model
Jarmon G Lees, Haoxiang Zhang, Lebei Jiao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
Alison Yeung, Natalie B Tan, Tiong Y Tan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery
Anthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
BMJ Open
|
June 16, 2026
Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol
Janet C Long, Alison D Archibald, Klay Lamprell, et al.
Neurology
|
April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Journal of Medical Genetics
|
May 11, 2010
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes
Damien L Bruno, Britt-Marie Anderlid, Anna Lindstrand, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 29, 2022
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia
Thiago J R Rezende, Isaac M Adanyeguh, Filippo Arrigoni, et al.
Orphanet Journal of Rare Diseases
|
August 2, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
Mathew Wallis, Simon D Bodek, Jacob Munro, et al.
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.
Page
of 6