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Showing results (491-500 of 501) with videos related to

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Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
American Journal of Human Genetics|March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareZornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
American Journal of Human Genetics|January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
Pageof 51

Showing results (491-500 of 501) with videos related to

Sort By:
Pageof 51
Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Journal of Medical Genetics|June 29, 2021
Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.
Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.
American Journal of Human Genetics|March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareZornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
Human Mutation|July 17, 2015
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationKitiwan Rojnueangnit, Jing Xie, Alicia Gomes, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
American Journal of Human Genetics|January 2, 2018
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848Magdalena Koczkowska, Yunjia Chen, Tom Callens, et al.
Pageof 51