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American Journal of Human Genetics
|
February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Nature Genetics
|
February 14, 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
John J Reynolds, Louise S Bicknell, Paula Carroll, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Nature Genetics
|
June 12, 2026
A progeria syndrome links DNA hypermethylation to age-related pathology
Dan Sarni, Gráinne Neary, Paula L Carroll, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
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Search research articles
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Showing results (141-150 of 145) with videos related to
Sort By:
Page
of 15
You have reached the last page of results.
This site can display upto 145 results.
American Journal of Human Genetics
|
February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Nature Genetics
|
February 14, 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
John J Reynolds, Louise S Bicknell, Paula Carroll, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Nature Genetics
|
June 12, 2026
A progeria syndrome links DNA hypermethylation to age-related pathology
Dan Sarni, Gráinne Neary, Paula L Carroll, et al.
American Journal of Human Genetics
|
September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
Gillian Rice, Teresa Patrick, Rekha Parmar, et al.
Page
of 15