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Ada Hamosh

Showing results (61-70 of 109) with videos related to

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Annals of Neurology|July 28, 2016
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunctionJessica Duis, Shannon Dean, Carolyn Applegate, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 26, 2005
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenitaMary Armanios, Jiunn-Liang Chen, Yen-Pei Christy Chang, et al.
American Journal of Medical Genetics. Part A|May 26, 2012
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditionsMichael J Bamshad, Jay A Shendure, David Valle, et al.
American Journal of Respiratory and Critical Care Medicine|March 3, 2007
Heritability of lung disease severity in cystic fibrosisLori L Vanscoy, Scott M Blackman, Joseph M Collaco, et al.
Orphanet Journal of Rare Diseases|August 19, 2021
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence dataElizabeth Wohler, Renan Martin, Sean Griffith, et al.
European Journal of Human Genetics : EJHG|May 18, 2017
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delayKarin Weiss, Kristen Wigby, Madeleine Fannemel, et al.
Human Genomics|April 26, 2025
Expression of concern for global biomedical research by the human genome organization (HUGO)Ada Hamosh, Fabiana Arzuaga, Karen B Avraham, et al.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Annals of Neurology|November 30, 2005
Progressive cavitating leukoencephalopathy: a novel childhood diseaseSakkuBai Naidu, Genila Bibat, Doris Lin, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotypeRachel D Burnside, John G Pappas, Stephanie Sacharow, et al.
Pageof 11

Showing results (61-70 of 109) with videos related to

Sort By:
Pageof 11
Annals of Neurology|July 28, 2016
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunctionJessica Duis, Shannon Dean, Carolyn Applegate, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 26, 2005
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenitaMary Armanios, Jiunn-Liang Chen, Yen-Pei Christy Chang, et al.
American Journal of Medical Genetics. Part A|May 26, 2012
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditionsMichael J Bamshad, Jay A Shendure, David Valle, et al.
American Journal of Respiratory and Critical Care Medicine|March 3, 2007
Heritability of lung disease severity in cystic fibrosisLori L Vanscoy, Scott M Blackman, Joseph M Collaco, et al.
Orphanet Journal of Rare Diseases|August 19, 2021
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence dataElizabeth Wohler, Renan Martin, Sean Griffith, et al.
European Journal of Human Genetics : EJHG|May 18, 2017
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delayKarin Weiss, Kristen Wigby, Madeleine Fannemel, et al.
Human Genomics|April 26, 2025
Expression of concern for global biomedical research by the human genome organization (HUGO)Ada Hamosh, Fabiana Arzuaga, Karen B Avraham, et al.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Annals of Neurology|November 30, 2005
Progressive cavitating leukoencephalopathy: a novel childhood diseaseSakkuBai Naidu, Genila Bibat, Doris Lin, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotypeRachel D Burnside, John G Pappas, Stephanie Sacharow, et al.
Pageof 11