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European Journal of Human Genetics : EJHG
|
May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.
Science (New York, N.Y.)
|
December 2, 2021
Genetic and functional evidence links a missense variant in <i>B4GALT1</i> to lower LDL and fibrinogen
May E Montasser, Cristopher V Van Hout, Lawrence Miloscio, et al.
Nature Medicine
|
September 28, 2023
Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial
Maja Di Rocco, Eduardo Forleo-Neto, Robert J Pignolo, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 14, 2025
A rare variant in <i>GPR156</i> associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice
Bradley R Miller, Claudia Gonzaga-Jauregui, Karlla W Brigatti, et al.
Nature Communications
|
August 23, 2022
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
Parsa Akbari, Olukayode A Sosina, Jonas Bovijn, et al.
Science (New York, N.Y.)
|
July 2, 2021
Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity
Parsa Akbari, Ankit Gilani, Olukayode Sosina, et al.
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Showing results (91-100 of 96) with videos related to
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Page
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You have reached the last page of results.
This site can display upto 96 results.
European Journal of Human Genetics : EJHG
|
May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.
Science (New York, N.Y.)
|
December 2, 2021
Genetic and functional evidence links a missense variant in <i>B4GALT1</i> to lower LDL and fibrinogen
May E Montasser, Cristopher V Van Hout, Lawrence Miloscio, et al.
Nature Medicine
|
September 28, 2023
Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial
Maja Di Rocco, Eduardo Forleo-Neto, Robert J Pignolo, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 14, 2025
A rare variant in <i>GPR156</i> associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice
Bradley R Miller, Claudia Gonzaga-Jauregui, Karlla W Brigatti, et al.
Nature Communications
|
August 23, 2022
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
Parsa Akbari, Olukayode A Sosina, Jonas Bovijn, et al.
Science (New York, N.Y.)
|
July 2, 2021
Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity
Parsa Akbari, Ankit Gilani, Olukayode Sosina, et al.
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of 10