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Showing results (781-790 of 915) with videos related to

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Molecular Autism|November 14, 2014
The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analysesJoseph D Buxbaum, Nadia Bolshakova, Jessica M Brownfeld, et al.
Cell Reports|November 23, 2022
Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologiesNadeem Murtaza, Annie A Cheng, Chad O Brown, et al.
American Journal of Human Genetics|May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping ConditionsDarci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.
Frontiers in Genetics|December 18, 2020
A Distributed Whole Genome Sequencing Benchmark StudyRichard D Corbett, Robert Eveleigh, Joe Whitney, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, 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.
American Journal of Human Genetics|June 21, 2008
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall, Edwin J Young, Ariel M Pani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2026
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disordersZain Awamleh, Anthony Chen, Sanaa Choufani, et al.
Genome Research|November 24, 2006
Accurate and reliable high-throughput detection of copy number variation in the human genomeHeike Fiegler, Richard Redon, Dan Andrews, 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.
Pageof 92

Showing results (781-790 of 915) with videos related to

Sort By:
Pageof 92
Molecular Autism|November 14, 2014
The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analysesJoseph D Buxbaum, Nadia Bolshakova, Jessica M Brownfeld, et al.
Cell Reports|November 23, 2022
Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologiesNadeem Murtaza, Annie A Cheng, Chad O Brown, et al.
American Journal of Human Genetics|May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping ConditionsDarci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.
Frontiers in Genetics|December 18, 2020
A Distributed Whole Genome Sequencing Benchmark StudyRichard D Corbett, Robert Eveleigh, Joe Whitney, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, 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.
American Journal of Human Genetics|June 21, 2008
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall, Edwin J Young, Ariel M Pani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 19, 2026
KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disordersZain Awamleh, Anthony Chen, Sanaa Choufani, et al.
Genome Research|November 24, 2006
Accurate and reliable high-throughput detection of copy number variation in the human genomeHeike Fiegler, Richard Redon, Dan Andrews, 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.
Pageof 92