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Human Molecular Genetics
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January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Eunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
Genome Medicine
|
September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variants
Tomasz Gambin, Bo Yuan, Weimin Bi, et al.
HGG Advances
|
January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Chaofan Zhang, Angad Jolly, Brian J Shayota, et al.
JAMA Internal Medicine
|
October 30, 2023
Nurse Care Management for Opioid Use Disorder Treatment: The PROUD Cluster Randomized Clinical Trial
Paige D Wartko, Jennifer F Bobb, Denise M Boudreau, et al.
American Journal of Human Genetics
|
April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Elke Bogaert, Aurore Garde, Thierry Gautier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Nature
|
March 27, 2025
The contribution of de novo coding mutations to meningomyelocele
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
Science (New York, N.Y.)
|
May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
Nature
|
March 17, 2022
A kinase-cGAS cascade to synthesize a therapeutic STING activator
John A McIntosh, Zhijian Liu, Brian M Andresen, et al.
Women'S Health Issues : Official Publication of the Jacobs Institute of Women'S Health
|
March 12, 2021
Bridging the Chasm between Pregnancy and Health over the Life Course: A National Agenda for Research and Action
Lois McCloskey, Judith Bernstein, The Bridging The Chasm Collaborative, et al.
Page
of 81
Search research articles
Search
Showing results (791-800 of 803) with videos related to
Sort By:
Page
of 81
Human Molecular Genetics
|
January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Eunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
Genome Medicine
|
September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variants
Tomasz Gambin, Bo Yuan, Weimin Bi, et al.
HGG Advances
|
January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Chaofan Zhang, Angad Jolly, Brian J Shayota, et al.
JAMA Internal Medicine
|
October 30, 2023
Nurse Care Management for Opioid Use Disorder Treatment: The PROUD Cluster Randomized Clinical Trial
Paige D Wartko, Jennifer F Bobb, Denise M Boudreau, et al.
American Journal of Human Genetics
|
April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Elke Bogaert, Aurore Garde, Thierry Gautier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Pleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Nature
|
March 27, 2025
The contribution of de novo coding mutations to meningomyelocele
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, et al.
Science (New York, N.Y.)
|
May 2, 2024
Risk of meningomyelocele mediated by the common 22q11.2 deletion
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, et al.
Nature
|
March 17, 2022
A kinase-cGAS cascade to synthesize a therapeutic STING activator
John A McIntosh, Zhijian Liu, Brian M Andresen, et al.
Women'S Health Issues : Official Publication of the Jacobs Institute of Women'S Health
|
March 12, 2021
Bridging the Chasm between Pregnancy and Health over the Life Course: A National Agenda for Research and Action
Lois McCloskey, Judith Bernstein, The Bridging The Chasm Collaborative, et al.
Page
of 81