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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 Glycosylation
Carlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Nucleic Acids Research
|
November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian 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 delay
Ronit 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 Phenotypes
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, 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 genome
Kerstin Howe, Matthew D Clark, Carlos F Torroja, et al.
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of 10
Search research articles
Search
Showing results (91-100 of 96) with videos related to
Sort By:
Page
of 10
You have reached the last page of results.
This site can display upto 96 results.
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 Glycosylation
Carlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Nucleic Acids Research
|
November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian 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 delay
Ronit 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 Phenotypes
Lindsay C Burrage, John J Reynolds, Nissan Vida Baratang, 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 genome
Kerstin Howe, Matthew D Clark, Carlos F Torroja, et al.
Page
of 10