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Ana S A Cohen

Showing results (1-10 of 36) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2023
Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollmentNatalie J Kane, Ana S A Cohen, Courtney Berrios, et al.
Journal of Human Genetics|March 20, 2015
A novel mutation in EED associated with overgrowthAna S A Cohen, Beyhan Tuysuz, Yaoqing Shen, et al.
Journal of Human Genetics|January 26, 2017
Corrigendum: A novel mutation in EED associated with overgrowthAna S A Cohen, Beyhan Tuysuz, Yaoqing Shen, et al.
American Journal of Medical Genetics. Part A|March 6, 2020
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defectsAna S A Cohen, Christopher Simotas, Bryn D Webb, et al.
Clinical Epigenetics|July 15, 2018
Loss of maternal EED results in postnatal overgrowthLexie Prokopuk, Jessica M Stringer, Craig R White, et al.
American Journal of Human Genetics|April 18, 2024
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populationsAna S A Cohen, Courtney D Berrios, Tricia N Zion, et al.
Clinical Genetics|May 9, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case seriesMaxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Nature Communications|September 18, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 27, 2015
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical pictureShira Harel, Ana S A Cohen, Khalid Hussain, et al.
Pageof 4

Showing results (1-10 of 36) with videos related to

Sort By:
Pageof 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2023
Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollmentNatalie J Kane, Ana S A Cohen, Courtney Berrios, et al.
Journal of Human Genetics|March 20, 2015
A novel mutation in EED associated with overgrowthAna S A Cohen, Beyhan Tuysuz, Yaoqing Shen, et al.
Journal of Human Genetics|January 26, 2017
Corrigendum: A novel mutation in EED associated with overgrowthAna S A Cohen, Beyhan Tuysuz, Yaoqing Shen, et al.
American Journal of Medical Genetics. Part A|March 6, 2020
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defectsAna S A Cohen, Christopher Simotas, Bryn D Webb, et al.
Clinical Epigenetics|July 15, 2018
Loss of maternal EED results in postnatal overgrowthLexie Prokopuk, Jessica M Stringer, Craig R White, et al.
American Journal of Human Genetics|April 18, 2024
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populationsAna S A Cohen, Courtney D Berrios, Tricia N Zion, et al.
Clinical Genetics|May 9, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case seriesMaxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Nature Communications|September 18, 2024
Complex trait associations in rare diseases and impacts on Mendelian variant interpretationCraig Smail, Bing Ge, Marissa R Keever-Keigher, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 27, 2015
Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical pictureShira Harel, Ana S A Cohen, Khalid Hussain, et al.
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