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Medrxiv : the Preprint Server for Health Sciences
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June 4, 2026
Comprehensive analysis of <i>de novo</i> variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease
Nehir E Kurtas, Alba Sanchis-Juan, Eren Shin, et al.
Science (New York, N.Y.)
|
December 15, 2018
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
Joon-Yong An, Kevin Lin, Lingxue Zhu, et al.
Annals of Neurology
|
January 25, 2023
Genome-Wide Analysis of Structural Variants in Parkinson Disease
Kimberley J Billingsley, Jinhui Ding, Pilar Alvarez Jerez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Biorxiv : the Preprint Server for Biology
|
September 8, 2025
Aberrant recursive splicing in a human disease locus
Philip M Boone, Ricardo Harripaul, Rachita Yadav, et al.
Nature
|
February 4, 2021
Author Correction: A structural variation reference for medical and population genetics
Ryan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Nature
|
May 29, 2020
A structural variation reference for medical and population genetics
Ryan L Collins, Harrison Brand, Konrad J Karczewski, et al.
American Journal of Human Genetics
|
August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Chelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature Genetics
|
April 28, 2018
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
Donna M Werling, Harrison Brand, Joon-Yong An, et al.
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of 5
Search research articles
Search
Showing results (31-40 of 48) with videos related to
Sort By:
Page
of 5
Medrxiv : the Preprint Server for Health Sciences
|
June 4, 2026
Comprehensive analysis of <i>de novo</i> variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease
Nehir E Kurtas, Alba Sanchis-Juan, Eren Shin, et al.
Science (New York, N.Y.)
|
December 15, 2018
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
Joon-Yong An, Kevin Lin, Lingxue Zhu, et al.
Annals of Neurology
|
January 25, 2023
Genome-Wide Analysis of Structural Variants in Parkinson Disease
Kimberley J Billingsley, Jinhui Ding, Pilar Alvarez Jerez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Biorxiv : the Preprint Server for Biology
|
September 8, 2025
Aberrant recursive splicing in a human disease locus
Philip M Boone, Ricardo Harripaul, Rachita Yadav, et al.
Nature
|
February 4, 2021
Author Correction: A structural variation reference for medical and population genetics
Ryan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Nature
|
May 29, 2020
A structural variation reference for medical and population genetics
Ryan L Collins, Harrison Brand, Konrad J Karczewski, et al.
American Journal of Human Genetics
|
August 18, 2023
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Chelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
Nature Genetics
|
April 28, 2018
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
Donna M Werling, Harrison Brand, Joon-Yong An, et al.
Page
of 5