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Arthur S Lee

Showing results (11-20 of 16) with videos related to

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American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, 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 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.
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.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, 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 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.
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.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
Pageof 2