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Ada Hamosh

Showing results (41-50 of 109) with videos related to

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Bioinformatics (Oxford, England)|August 1, 2014
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseasesDamian Smedley, Sebastian Köhler, Johanna Christina Czeschik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2015
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian GenomicsJulie Jurgens, Hua Ling, Kurt Hetrick, et al.
Pediatric Research|December 19, 2003
Gastric function in children with cystic fibrosis: effect of diet on gastric lipase levels and fat digestionMartine Armand, Margit Hamosh, Jessica R Philpott, et al.
JIMD Reports|May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortemRaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
3q29 interstitial microduplication: a new syndrome in a three-generation familyEmily C Lisi, Ada Hamosh, Kimberly F Doheny, et al.
Human Mutation|February 16, 2022
The impact of GeneMatcher on international data sharing and collaborationAda Hamosh, Elizabeth Wohler, Renan Martin, et al.
Human Genomics|November 22, 2025
The HUGO Clinical Genomics & Genomic Medicine Education Survey: clinicians globally need and want genomic medicine trainingCharles Wray, Edward S Tobias, Dhavendra Kumar, et al.
Cell Genomics|June 27, 2022
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curationCourtney Thaxton, Jennifer Goldstein, Marina DiStefano, et al.
American Journal of Human Genetics|September 6, 2024
Implementation of a dyadic nomenclature for monogenic diseasesCourtney Thaxton, Leslie G Biesecker, Marina DiStefano, et al.
Molecular Genetics and Metabolism|December 26, 2012
A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinicsBarbara K Burton, Lauren Leviton, Hazel Vespa, et al.
Pageof 11

Showing results (41-50 of 109) with videos related to

Sort By:
Pageof 11
Bioinformatics (Oxford, England)|August 1, 2014
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseasesDamian Smedley, Sebastian Köhler, Johanna Christina Czeschik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2015
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian GenomicsJulie Jurgens, Hua Ling, Kurt Hetrick, et al.
Pediatric Research|December 19, 2003
Gastric function in children with cystic fibrosis: effect of diet on gastric lipase levels and fat digestionMartine Armand, Margit Hamosh, Jessica R Philpott, et al.
JIMD Reports|May 8, 2023
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortemRaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
3q29 interstitial microduplication: a new syndrome in a three-generation familyEmily C Lisi, Ada Hamosh, Kimberly F Doheny, et al.
Human Mutation|February 16, 2022
The impact of GeneMatcher on international data sharing and collaborationAda Hamosh, Elizabeth Wohler, Renan Martin, et al.
Human Genomics|November 22, 2025
The HUGO Clinical Genomics & Genomic Medicine Education Survey: clinicians globally need and want genomic medicine trainingCharles Wray, Edward S Tobias, Dhavendra Kumar, et al.
Cell Genomics|June 27, 2022
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curationCourtney Thaxton, Jennifer Goldstein, Marina DiStefano, et al.
American Journal of Human Genetics|September 6, 2024
Implementation of a dyadic nomenclature for monogenic diseasesCourtney Thaxton, Leslie G Biesecker, Marina DiStefano, et al.
Molecular Genetics and Metabolism|December 26, 2012
A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinicsBarbara K Burton, Lauren Leviton, Hazel Vespa, et al.
Pageof 11