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The Lancet Regional Health. Western Pacific
|
November 19, 2024
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study
Lakshmi Balaji, Robin Forbes, Anita Cairns, et al.
Stem Cell Research
|
February 15, 2025
Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient
Vanessa G Crossman, Chrystal F Tiong, Chantal A Coles, et al.
Human Genetics
|
August 29, 2009
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
David P Dimasi, Jern Y Chen, Alex W Hewitt, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalities
Tiong Yang Tan, Amanda Collins, Paul A James, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 18, 2018
Nusinersen for SMA: expanded access programme
Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, et al.
Journal of Neuromuscular Diseases
|
February 20, 2025
International collaboration to improve knowledge on myotonic dystrophy type 2
Stojan Peric, Vukan Ivanovic, Emma-Jayne Ashley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 30, 2017
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening
Sylvia A Metcalfe, Melissa Martyn, Alice Ames, et al.
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Search research articles
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Showing results (21-30 of 27) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 27 results.
The Lancet Regional Health. Western Pacific
|
November 19, 2024
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study
Lakshmi Balaji, Robin Forbes, Anita Cairns, et al.
Stem Cell Research
|
February 15, 2025
Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient
Vanessa G Crossman, Chrystal F Tiong, Chantal A Coles, et al.
Human Genetics
|
August 29, 2009
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
David P Dimasi, Jern Y Chen, Alex W Hewitt, et al.
American Journal of Medical Genetics. Part A
|
June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalities
Tiong Yang Tan, Amanda Collins, Paul A James, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
March 18, 2018
Nusinersen for SMA: expanded access programme
Michelle A Farrar, Hooi Ling Teoh, Kate A Carey, et al.
Journal of Neuromuscular Diseases
|
February 20, 2025
International collaboration to improve knowledge on myotonic dystrophy type 2
Stojan Peric, Vukan Ivanovic, Emma-Jayne Ashley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 30, 2017
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening
Sylvia A Metcalfe, Melissa Martyn, Alice Ames, et al.
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of 3