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Showing results (281-290 of 290) with videos related to

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The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.
American Journal of Human Genetics|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Nature Genetics|July 5, 2022
Multiomic atlas with functional stratification and developmental dynamics of zebrafish cis-regulatory elementsDamir Baranasic, Matthias Hörtenhuber, Piotr J Balwierz, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
American Journal of Human Genetics|August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delayRonit Marom, Lindsay C Burrage, Rossella Venditti, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Nucleic Acids Research|November 20, 2012
Gene Ontology annotations and resources, J A Blake, M Dolan, et al.
Genetics|March 3, 2023
The Gene Ontology knowledgebase in 2023, Suzi A Aleksander, James Balhoff, et al.
Nature|April 19, 2013
The zebrafish reference genome sequence and its relationship to the human genomeKerstin Howe, Matthew D Clark, Carlos F Torroja, et al.
Pageof 29

Showing results (281-290 of 290) with videos related to

Sort By:
Pageof 29
You have reached the last page of results.This site can display upto 290 results.
The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.
American Journal of Human Genetics|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Nature Genetics|July 5, 2022
Multiomic atlas with functional stratification and developmental dynamics of zebrafish cis-regulatory elementsDamir Baranasic, Matthias Hörtenhuber, Piotr J Balwierz, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
American Journal of Human Genetics|August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delayRonit Marom, Lindsay C Burrage, Rossella Venditti, et al.
American Journal of Human Genetics|February 19, 2019
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesLindsay C Burrage, John J Reynolds, Nissan Vida Baratang, et al.
Nucleic Acids Research|November 20, 2012
Gene Ontology annotations and resources, J A Blake, M Dolan, et al.
Genetics|March 3, 2023
The Gene Ontology knowledgebase in 2023, Suzi A Aleksander, James Balhoff, et al.
Nature|April 19, 2013
The zebrafish reference genome sequence and its relationship to the human genomeKerstin Howe, Matthew D Clark, Carlos F Torroja, et al.
Pageof 29