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Anne M Slavotinek

Showing results (81-90 of 93) with videos related to

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Journal of Medical Genetics|April 22, 2011
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, et al.
Human Mutation|October 13, 2018
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working GroupElizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, et al.
American Journal of Human Genetics|September 7, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|May 21, 2019
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine ResearchCarol R Horowitz, Lori A Orlando, Anne M Slavotinek, et al.
Journal of Medical Genetics|December 20, 2011
Further clinical and molecular delineation of the 15q24 microdeletion syndromeHeather C Mefford, Jill A Rosenfeld, Natasha Shur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published casesFrancis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
American Journal of Human Genetics|September 8, 2018
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved PopulationsLaura M Amendola, Jonathan S Berg, Carol R Horowitz, et al.
Medrxiv : the Preprint Server for Health Sciences|December 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDERWallid Deb, Thomas Besnard, Florence Desprez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
Pageof 10

Showing results (81-90 of 93) with videos related to

Sort By:
Pageof 10
Journal of Medical Genetics|April 22, 2011
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, et al.
Human Mutation|October 13, 2018
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working GroupElizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, et al.
American Journal of Human Genetics|September 7, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|May 21, 2019
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine ResearchCarol R Horowitz, Lori A Orlando, Anne M Slavotinek, et al.
Journal of Medical Genetics|December 20, 2011
Further clinical and molecular delineation of the 15q24 microdeletion syndromeHeather C Mefford, Jill A Rosenfeld, Natasha Shur, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published casesFrancis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
American Journal of Human Genetics|September 8, 2018
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved PopulationsLaura M Amendola, Jonathan S Berg, Carol R Horowitz, et al.
Medrxiv : the Preprint Server for Health Sciences|December 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDERWallid Deb, Thomas Besnard, Florence Desprez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
Pageof 10