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Showing results (511-520 of 590) with videos related to

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American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Neuron|June 23, 2017
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette SyndromeAlden Y Huang, Dongmei Yu, Lea K Davis, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Nature Genetics|December 6, 2011
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorderJosephine Elia, Joseph T Glessner, Kai Wang, et al.
Translational Psychiatry|January 19, 2021
Synaptic processes and immune-related pathways implicated in Tourette syndromeFotis Tsetsos, Dongmei Yu, Jae Hoon Sul, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Pageof 59

Showing results (511-520 of 590) with videos related to

Sort By:
Pageof 59
American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Nature Communications|March 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Neuron|June 23, 2017
Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette SyndromeAlden Y Huang, Dongmei Yu, Lea K Davis, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtypeIlaria Parenti, Alina Hesters, Marta Gil-Salvador, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Nature Genetics|December 6, 2011
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorderJosephine Elia, Joseph T Glessner, Kai Wang, et al.
Translational Psychiatry|January 19, 2021
Synaptic processes and immune-related pathways implicated in Tourette syndromeFotis Tsetsos, Dongmei Yu, Jae Hoon Sul, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Pageof 59