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Ada Hamosh

Showing results (51-60 of 109) with videos related to

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Annals of Human Genetics|July 15, 2025
From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant InterpretationAndreas Laner, Bin Alwi Zilfalil, Sherifa Ahmed Hamed, et al.
European Journal of Human Genetics : EJHG|September 9, 2010
Genomic analysis of partial 21q monosomies with variable phenotypesElisha D O Roberson, Elizabeth Squibb Wohler, Julie E Hoover-Fong, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 17, 2002
Association of human aging with a functional variant of klothoDan E Arking, Alice Krebsova, Milan Macek, et al.
Human Mutation|July 13, 2017
"Matching" consent to purpose: The example of the Matchmaker ExchangeStephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsyLeah Fleming, Monica Lemmon, Natalie Beck, et al.
Genome Research|September 6, 2011
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencingNara L M Sobreira, Veena Gnanakkan, Michael Walsh, et al.
Neonatology|July 17, 2012
Amplitude-integrated electroencephalography in newborns with inborn errors of metabolismMonika Olischar, Eilon Shany, Canan Aygün, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)Lynn W Bush, Anita E Beck, Leslie G Biesecker, et al.
Molecular Genetics and Metabolism|November 28, 2008
Citrin deficiency, a perplexing global disorderDavid Dimmock, Bruno Maranda, Carlo Dionisi-Vici, et al.
Prenatal Diagnosis|January 30, 2020
The utility of exome sequencing for fetal pleural effusionsAngie C Jelin, Nara Sobreira, Elizabeth Wohler, et al.
Pageof 11

Showing results (51-60 of 109) with videos related to

Sort By:
Pageof 11
Annals of Human Genetics|July 15, 2025
From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant InterpretationAndreas Laner, Bin Alwi Zilfalil, Sherifa Ahmed Hamed, et al.
European Journal of Human Genetics : EJHG|September 9, 2010
Genomic analysis of partial 21q monosomies with variable phenotypesElisha D O Roberson, Elizabeth Squibb Wohler, Julie E Hoover-Fong, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 17, 2002
Association of human aging with a functional variant of klothoDan E Arking, Alice Krebsova, Milan Macek, et al.
Human Mutation|July 13, 2017
"Matching" consent to purpose: The example of the Matchmaker ExchangeStephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, et al.
American Journal of Medical Genetics. Part A|September 24, 2015
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsyLeah Fleming, Monica Lemmon, Natalie Beck, et al.
Genome Research|September 6, 2011
Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencingNara L M Sobreira, Veena Gnanakkan, Michael Walsh, et al.
Neonatology|July 17, 2012
Amplitude-integrated electroencephalography in newborns with inborn errors of metabolismMonika Olischar, Eilon Shany, Canan Aygün, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)Lynn W Bush, Anita E Beck, Leslie G Biesecker, et al.
Molecular Genetics and Metabolism|November 28, 2008
Citrin deficiency, a perplexing global disorderDavid Dimmock, Bruno Maranda, Carlo Dionisi-Vici, et al.
Prenatal Diagnosis|January 30, 2020
The utility of exome sequencing for fetal pleural effusionsAngie C Jelin, Nara Sobreira, Elizabeth Wohler, et al.
Pageof 11