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James Stavropoulos

Showing results (21-30 of 30) with videos related to

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American Journal of Human Genetics|February 4, 2018
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion SyndromeMohammed Uddin, Brianna K Unda, Vickie Kwan, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
NPJ Genomic Medicine|February 17, 2021
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in BangladeshHosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
Human Molecular Genetics|July 25, 2015
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disabilityAbolfazl Heidari, Chanakan Tongsook, Reza Najafipour, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 11, 2015
BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade gliomaMatthew Mistry, Nataliya Zhukova, Daniele Merico, et al.
Journal of Genetic Counseling|May 5, 2026
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencingAbigail Hansen, Stephanie Luca, Olivia Moran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
American Journal of Human Genetics|February 4, 2018
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion SyndromeMohammed Uddin, Brianna K Unda, Vickie Kwan, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
NPJ Genomic Medicine|February 17, 2021
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in BangladeshHosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
Human Mutation|May 4, 2021
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency DisorderJustin O Szot, Anne Slavotinek, Karen Chong, et al.
Human Molecular Genetics|July 25, 2015
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disabilityAbolfazl Heidari, Chanakan Tongsook, Reza Najafipour, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 11, 2015
BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade gliomaMatthew Mistry, Nataliya Zhukova, Daniele Merico, et al.
Journal of Genetic Counseling|May 5, 2026
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencingAbigail Hansen, Stephanie Luca, Olivia Moran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.
Pageof 3