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Daniel G MacArthur

Showing results (171-180 of 216) with videos related to

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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 disordersJulie 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 disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Nature|April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature|February 4, 2021
Author Correction: A structural variation reference for medical and population geneticsRyan 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 anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
American Journal of Human Genetics|February 9, 2019
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Nature Communications|September 14, 2016
Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitisManuel A Rivas, Daniel Graham, Patrick Sulem, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Biorxiv : the Preprint Server for Biology|April 28, 2025
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscapeHope A Tanudisastro, Anna S E Cuomo, Ben Weisburd, et al.
Pageof 22

Showing results (171-180 of 216) with videos related to

Sort By:
Pageof 22
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 disordersJulie 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 disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Nature|April 8, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disordersJoachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, et al.
Nature|February 4, 2021
Author Correction: A structural variation reference for medical and population geneticsRyan 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 anomaliesChelsea Lowther, Elise Valkanas, Jessica L Giordano, et al.
American Journal of Human Genetics|December 4, 2018
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
American Journal of Human Genetics|February 9, 2019
The Genetic Landscape of Diamond-Blackfan AnemiaJacob C Ulirsch, Jeffrey M Verboon, Shideh Kazerounian, et al.
Nature Communications|September 14, 2016
Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitisManuel A Rivas, Daniel Graham, Patrick Sulem, et al.
Nature|May 29, 2020
A structural variation reference for medical and population geneticsRyan L Collins, Harrison Brand, Konrad J Karczewski, et al.
Biorxiv : the Preprint Server for Biology|April 28, 2025
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscapeHope A Tanudisastro, Anna S E Cuomo, Ben Weisburd, et al.
Pageof 22