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Showing results (841-850 of 915) with videos related to

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Clinical Genetics|August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.
G3 (Bethesda, Md.)|January 15, 2017
<i>De Novo</i> Genome and Transcriptome Assembly of the Canadian Beaver (<i>Castor canadensis</i>)Si Lok, Tara A Paton, Zhuozhi Wang, et al.
Science (New York, N.Y.)|September 1, 2018
Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumorsNathaniel D Anderson, Richard de Borja, Matthew D Young, et al.
Nature|July 28, 2020
Genome-wide detection of tandem DNA repeats that are expanded in autismBrett Trost, Worrawat Engchuan, Charlotte M Nguyen, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
Rheumatology (Oxford, England)|April 23, 2020
Associations of clinical and inflammatory biomarker clusters with juvenile idiopathic arthritis categoriesElham Rezaei, Daniel Hogan, Brett Trost, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Science (New York, N.Y.)|April 21, 2018
Paternally inherited cis-regulatory structural variants are associated with autismWilliam M Brandler, Danny Antaki, Madhusudan Gujral, et al.
Brain : a Journal of Neurology|July 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatoniaHarsha Murthy, Ny Hoang, Jamie C Stark, et al.
Pageof 92

Showing results (841-850 of 915) with videos related to

Sort By:
Pageof 92
Clinical Genetics|August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.
G3 (Bethesda, Md.)|January 15, 2017
<i>De Novo</i> Genome and Transcriptome Assembly of the Canadian Beaver (<i>Castor canadensis</i>)Si Lok, Tara A Paton, Zhuozhi Wang, et al.
Science (New York, N.Y.)|September 1, 2018
Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumorsNathaniel D Anderson, Richard de Borja, Matthew D Young, et al.
Nature|July 28, 2020
Genome-wide detection of tandem DNA repeats that are expanded in autismBrett Trost, Worrawat Engchuan, Charlotte M Nguyen, et al.
American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.
Rheumatology (Oxford, England)|April 23, 2020
Associations of clinical and inflammatory biomarker clusters with juvenile idiopathic arthritis categoriesElham Rezaei, Daniel Hogan, Brett Trost, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Science (New York, N.Y.)|April 21, 2018
Paternally inherited cis-regulatory structural variants are associated with autismWilliam M Brandler, Danny Antaki, Madhusudan Gujral, et al.
Brain : a Journal of Neurology|July 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatoniaHarsha Murthy, Ny Hoang, Jamie C Stark, et al.
Pageof 92