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Journal of Medical Genetics
|
April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
Kelly A Bear, Benjamin D Solomon, Sonir Antonini, et al.
American Journal of Medical Genetics. Part A
|
May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
Benjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.
American Journal of Human Genetics
|
June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations
Jennifer J Johnston, Katie L Lewis, David Ng, et al.
Clinical Dysmorphology
|
August 17, 2012
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis
Enrika Bartels, Anna C Schulz, Nicole W Mora, et al.
Science Immunology
|
May 2, 2025
Distinct type I and II interferon responses direct cortical and medullary thymic epithelial cell development
Abdulvasey Mohammed, Wenqing Wang, Martin Arreola, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 6, 2019
Genomic and molecular characterization of preterm birth
Theo A Knijnenburg, Joseph G Vockley, Nyasha Chambwe, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America
|
November 17, 2025
IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes
Chen Wang, Beatriz E Marciano, Annalie J Harris, et al.
Science Advances
|
February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
Kezhi Yan, Justine Rousseau, Keren Machol, et al.
Cell
|
April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
Michael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.
Nature
|
October 29, 2020
Strategic vision for improving human health at The Forefront of Genomics
Eric D Green, Chris Gunter, Leslie G Biesecker, et al.
Page
of 18
Search research articles
Search
Showing results (161-170 of 179) with videos related to
Sort By:
Page
of 18
Journal of Medical Genetics
|
April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
Kelly A Bear, Benjamin D Solomon, Sonir Antonini, et al.
American Journal of Medical Genetics. Part A
|
May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
Benjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.
American Journal of Human Genetics
|
June 6, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations
Jennifer J Johnston, Katie L Lewis, David Ng, et al.
Clinical Dysmorphology
|
August 17, 2012
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis
Enrika Bartels, Anna C Schulz, Nicole W Mora, et al.
Science Immunology
|
May 2, 2025
Distinct type I and II interferon responses direct cortical and medullary thymic epithelial cell development
Abdulvasey Mohammed, Wenqing Wang, Martin Arreola, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 6, 2019
Genomic and molecular characterization of preterm birth
Theo A Knijnenburg, Joseph G Vockley, Nyasha Chambwe, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America
|
November 17, 2025
IL12RB1 deficiency appearing in North America: expanding the clinical phenotypes
Chen Wang, Beatriz E Marciano, Annalie J Harris, et al.
Science Advances
|
February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
Kezhi Yan, Justine Rousseau, Keren Machol, et al.
Cell
|
April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
Michael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.
Nature
|
October 29, 2020
Strategic vision for improving human health at The Forefront of Genomics
Eric D Green, Chris Gunter, Leslie G Biesecker, et al.
Page
of 18