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Daryl A Scott

Showing results (91-100 of 128) with videos related to

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Journal of Medical Genetics|June 14, 2023
Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delayArezoo Mohajeri, Maryam Vaseghi-Shanjani, Jill A Rosenfeld, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Circulation. Genomic and Precision Medicine|July 3, 2023
<i>PRDM16</i> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort StudyRyan J Kramer, Amir Nima Fatahian, Alice Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2026
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorderAli H Bereshneh, Kirkland A Wilson, Xueyang Pan, et al.
Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.
European Journal of Human Genetics : EJHG|July 21, 2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistulaErwin Brosens, Florian Marsch, Elisabeth M de Jong, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
Rare variants in <i>PRKCI</i> cause Van der Woude syndrome and other features of peridermopathyKelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
American Journal of Human Genetics|April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 DeletionsBrieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
Pageof 13

Showing results (91-100 of 128) with videos related to

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Pageof 13
Journal of Medical Genetics|June 14, 2023
Dominant negative variants in <i>IKZF2</i> cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delayArezoo Mohajeri, Maryam Vaseghi-Shanjani, Jill A Rosenfeld, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveMari J Tokita, Alicia A Braxton, Yunru Shao, et al.
Circulation. Genomic and Precision Medicine|July 3, 2023
<i>PRDM16</i> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort StudyRyan J Kramer, Amir Nima Fatahian, Alice Chan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2026
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorderAli H Bereshneh, Kirkland A Wilson, Xueyang Pan, et al.
Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.
European Journal of Human Genetics : EJHG|July 21, 2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistulaErwin Brosens, Florian Marsch, Elisabeth M de Jong, et al.
Medrxiv : the Preprint Server for Health Sciences|January 27, 2025
Rare variants in <i>PRKCI</i> cause Van der Woude syndrome and other features of peridermopathyKelsey Robinson, Sunil K Singh, Rachel B Walkup, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
American Journal of Human Genetics|April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 DeletionsBrieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
Pageof 13