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Benjamin D Solomon

Showing results (161-170 of 179) with videos related to

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Journal of Medical Genetics|April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyKelly 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 GeneticsBenjamin 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 mutationsJennifer 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 analysisEnrika 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 developmentAbdulvasey 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 birthTheo 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 phenotypesChen 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 cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.
Cell|April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundariesMichael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.
Nature|October 29, 2020
Strategic vision for improving human health at The Forefront of GenomicsEric D Green, Chris Gunter, Leslie G Biesecker, et al.
Pageof 18

Showing results (161-170 of 179) with videos related to

Sort By:
Pageof 18
Journal of Medical Genetics|April 19, 2014
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyKelly 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 GeneticsBenjamin 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 mutationsJennifer 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 analysisEnrika 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 developmentAbdulvasey 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 birthTheo 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 phenotypesChen 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 cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.
Cell|April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundariesMichael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.
Nature|October 29, 2020
Strategic vision for improving human health at The Forefront of GenomicsEric D Green, Chris Gunter, Leslie G Biesecker, et al.
Pageof 18