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Showing results (731-740 of 915) with videos related to

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European Journal of Human Genetics : EJHG|June 6, 2023
Three generation families: Analysis of de novo variants in autismClaudia I Samogy Costa, Gabriele da Silva Campos, Eduarda Morgana da Silva Montenegro, et al.
Human Genetics|May 26, 1998
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyF R Vargas, E Roessler, K Gaudenz, et al.
Molecular Genetics & Genomic Medicine|June 27, 2020
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex familyFrancesca Cucinotta, Arianna Ricciardello, Laura Turriziani, et al.
Journal of Neurodevelopmental Disorders|October 26, 2016
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variationMatthew J Gazzellone, Mehdi Zarrei, Christie L Burton, et al.
Biological Psychiatry|September 22, 2019
Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-ASP Joel Ross, Wen-Bo Zhang, Rebecca S F Mok, et al.
Nature Communications|November 3, 2015
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicingDaniele Merico, Maian Roifman, Ulrich Braunschweig, et al.
Human Genetics|November 15, 2022
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencingQiliang Ding, Cherith Somerville, Roozbeh Manshaei, et al.
BMC Medical Genomics|January 30, 2013
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5CDaria Grafodatskaya, Barian H Y Chung, Darci T Butcher, et al.
NPJ Genomic Medicine|December 22, 2017
<i>De novo</i> large rare copy-number variations contribute to conotruncal heart disease in Chinese patientsChristopher C Y Mak, Pak Cheong Chow, Anthony P Y Liu, et al.
Journal of Medical Genetics|July 16, 2018
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delayKit San Yeung, Matthew Sai Pong Ho, So Lun Lee, et al.
Pageof 92

Showing results (731-740 of 915) with videos related to

Sort By:
Pageof 92
European Journal of Human Genetics : EJHG|June 6, 2023
Three generation families: Analysis of de novo variants in autismClaudia I Samogy Costa, Gabriele da Silva Campos, Eduarda Morgana da Silva Montenegro, et al.
Human Genetics|May 26, 1998
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyF R Vargas, E Roessler, K Gaudenz, et al.
Molecular Genetics & Genomic Medicine|June 27, 2020
FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex familyFrancesca Cucinotta, Arianna Ricciardello, Laura Turriziani, et al.
Journal of Neurodevelopmental Disorders|October 26, 2016
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variationMatthew J Gazzellone, Mehdi Zarrei, Christie L Burton, et al.
Biological Psychiatry|September 22, 2019
Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-ASP Joel Ross, Wen-Bo Zhang, Rebecca S F Mok, et al.
Nature Communications|November 3, 2015
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicingDaniele Merico, Maian Roifman, Ulrich Braunschweig, et al.
Human Genetics|November 15, 2022
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencingQiliang Ding, Cherith Somerville, Roozbeh Manshaei, et al.
BMC Medical Genomics|January 30, 2013
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5CDaria Grafodatskaya, Barian H Y Chung, Darci T Butcher, et al.
NPJ Genomic Medicine|December 22, 2017
<i>De novo</i> large rare copy-number variations contribute to conotruncal heart disease in Chinese patientsChristopher C Y Mak, Pak Cheong Chow, Anthony P Y Liu, et al.
Journal of Medical Genetics|July 16, 2018
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delayKit San Yeung, Matthew Sai Pong Ho, So Lun Lee, et al.
Pageof 92