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R Chao

Showing results (291-300 of 316) with videos related to

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Cancer Research|December 9, 2020
A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer SusceptibilityNima C Emami, Taylor B Cavazos, Sara R Rashkin, et al.
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
American Journal of Medical Genetics. Part A|August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndromeSandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
Nature Communications|February 1, 2017
Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancerThomas J Hoffmann, Michael N Passarelli, Rebecca E Graff, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomesKatherine R Chao, Lily Wang, Ruchit Panchal, et al.
Journal of the National Cancer Institute|July 12, 2019
Evaluating Screening Participation, Follow-up, and Outcomes for Breast, Cervical, and Colorectal Cancer in the PROSPR ConsortiumWilliam E Barlow, Elisabeth F Beaber, Berta M Geller, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
American Journal of Human Genetics|May 11, 2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyJoel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Pageof 32

Showing results (291-300 of 316) with videos related to

Sort By:
Pageof 32
Cancer Research|December 9, 2020
A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer SusceptibilityNima C Emami, Taylor B Cavazos, Sara R Rashkin, et al.
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
American Journal of Medical Genetics. Part A|August 11, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndromeSandra Donkervoort, Payam Mohassel, Lucia Laugwitz, et al.
Nature Communications|February 1, 2017
Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancerThomas J Hoffmann, Michael N Passarelli, Rebecca E Graff, et al.
Biorxiv : the Preprint Server for Biology|April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomesKatherine R Chao, Lily Wang, Ruchit Panchal, et al.
Journal of the National Cancer Institute|July 12, 2019
Evaluating Screening Participation, Follow-up, and Outcomes for Breast, Cervical, and Colorectal Cancer in the PROSPR ConsortiumWilliam E Barlow, Elisabeth F Beaber, Berta M Geller, et al.
Human Mutation|October 30, 2019
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathySamantha J Bryen, Lisa J Ewans, Jason Pinner, et al.
Annals of Clinical and Translational Neurology|March 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneRhett G Marchant, Samantha J Bryen, Melanie Bahlo, et al.
American Journal of Human Genetics|May 11, 2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyJoel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Pageof 32