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Anne Slavotinek

Showing results (91-100 of 147) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic AncestryYusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, et al.
European Journal of Medical Genetics|January 20, 2020
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizuresAnne Slavotinek, Johanna M van Hagen, Louisa Kalsner, et al.
American Journal of Human Genetics|March 18, 2023
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individualsRebecca Truty, Susan Rojahn, Karen Ouyang, et al.
Experimental Eye Research|March 21, 2016
Genetic analysis of consanguineous families presenting with congenital ocular defectsEhsan Ullah, Muhammad Arif Nadeem Saqib, Sundus Sajid, et al.
American Journal of Medical Genetics. Part A|September 17, 2015
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutationsAndreas R Janecke, Ben Li, Manfred Boehm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methodsBart S Ferket, Zach Baldwin, Priyanka Murali, et al.
American Journal of Medical Genetics. Part A|April 18, 2015
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencingYuri A Zarate, Hazel Perry, Tawfeg Ben-Omran, et al.
Plos One|May 21, 2010
A male with unilateral microphthalmia reveals a role for TMX3 in eye developmentRyan Chao, Linda Nevin, Pooja Agarwal, et al.
Medrxiv : the Preprint Server for Health Sciences|May 4, 2026
Determinants of DNA-sequence-based Diagnostic Yield in the CSER ConsortiumYusuph Mavura, David Crosslin, Kathleen Ferar, et al.
Journal of Medical Genetics|April 29, 2011
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic herniaMargaret J Wat, Danielle Veenma, Jacob Hogue, et al.
Pageof 15

Showing results (91-100 of 147) with videos related to

Sort By:
Pageof 15
Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic AncestryYusuph Mavura, Nuriye Sahin-Hodoglugil, Ugur Hodoglugil, et al.
European Journal of Medical Genetics|January 20, 2020
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizuresAnne Slavotinek, Johanna M van Hagen, Louisa Kalsner, et al.
American Journal of Human Genetics|March 18, 2023
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individualsRebecca Truty, Susan Rojahn, Karen Ouyang, et al.
Experimental Eye Research|March 21, 2016
Genetic analysis of consanguineous families presenting with congenital ocular defectsEhsan Ullah, Muhammad Arif Nadeem Saqib, Sundus Sajid, et al.
American Journal of Medical Genetics. Part A|September 17, 2015
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutationsAndreas R Janecke, Ben Li, Manfred Boehm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methodsBart S Ferket, Zach Baldwin, Priyanka Murali, et al.
American Journal of Medical Genetics. Part A|April 18, 2015
Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencingYuri A Zarate, Hazel Perry, Tawfeg Ben-Omran, et al.
Plos One|May 21, 2010
A male with unilateral microphthalmia reveals a role for TMX3 in eye developmentRyan Chao, Linda Nevin, Pooja Agarwal, et al.
Medrxiv : the Preprint Server for Health Sciences|May 4, 2026
Determinants of DNA-sequence-based Diagnostic Yield in the CSER ConsortiumYusuph Mavura, David Crosslin, Kathleen Ferar, et al.
Journal of Medical Genetics|April 29, 2011
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic herniaMargaret J Wat, Danielle Veenma, Jacob Hogue, et al.
Pageof 15