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Timothy W Yu

Showing results (71-80 of 92) with videos related to

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American Journal of Human Genetics|September 7, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
Autism Research : Official Journal of the International Society for Autism Research|May 14, 2014
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2Pauline Chaste, Stephan J Sanders, Kommu N Mohan, et al.
Nature Genetics|March 3, 2017
Biallelic mutations in human DCC cause developmental split-brain syndromeSaumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, et al.
Nature|July 12, 2023
A framework for individualized splice-switching oligonucleotide therapyJinkuk Kim, Sijae Woo, Claudio M de Gusmao, et al.
Communications Biology|February 14, 2026
Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathyFrancesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
The New England Journal of Medicine|August 21, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
Genome Research|June 21, 2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndromeGilad D Evrony, Dwight R Cordero, Jun Shen, et al.
American Journal of Human Genetics|March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatmentsDavid Cheerie, Margaret M Meserve, Danique Beijer, et al.
Pageof 10

Showing results (71-80 of 92) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|September 7, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
Autism Research : Official Journal of the International Society for Autism Research|May 14, 2014
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2Pauline Chaste, Stephan J Sanders, Kommu N Mohan, et al.
Nature Genetics|March 3, 2017
Biallelic mutations in human DCC cause developmental split-brain syndromeSaumya S Jamuar, Klaus Schmitz-Abe, Alissa M D'Gama, et al.
Nature|July 12, 2023
A framework for individualized splice-switching oligonucleotide therapyJinkuk Kim, Sijae Woo, Claudio M de Gusmao, et al.
Communications Biology|February 14, 2026
Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathyFrancesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, et al.
American Journal of Human Genetics|November 26, 2013
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline MyopathyVandana A Gupta, Gianina Ravenscroft, Ranad Shaheen, et al.
The New England Journal of Medicine|August 21, 2014
Somatic mutations in cerebral cortical malformationsSaumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
Genome Research|June 21, 2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndromeGilad D Evrony, Dwight R Cordero, Jun Shen, et al.
American Journal of Human Genetics|March 26, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatmentsDavid Cheerie, Margaret M Meserve, Danique Beijer, et al.
Pageof 10