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Jozef Gecz

Showing results (221-230 of 245) with videos related to

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American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
American Journal of Human Genetics|February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
American Journal of Human Genetics|June 4, 2021
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Nature Communications|October 31, 2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Mark A Corbett, Thessa Kroes, Liana Veneziano, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
Genome Biology|December 1, 2016
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortStefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Nature Genetics|April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPatrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.
Pageof 25

Showing results (221-230 of 245) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
American Journal of Human Genetics|February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
American Journal of Human Genetics|June 4, 2021
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
Nature Communications|October 31, 2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Mark A Corbett, Thessa Kroes, Liana Veneziano, et al.
Nature Communications|October 17, 2019
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disordersHui Guo, Elisa Bettella, Paul C Marcogliese, et al.
Genome Biology|December 1, 2016
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortStefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Nature Genetics|April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPatrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.
Pageof 25