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Jozef Gecz

Showing results (111-120 of 245) with videos related to

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European Journal of Human Genetics : EJHG|February 22, 2020
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferaseVeronica M Pravata, Michaela Omelková, Marios P Stavridis, et al.
Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, et al.
Epigenomics|October 4, 2024
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newbornsMohammed Alshawsh, Melissa Wake, Jozef Gecz, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disordersSiddharth Srivastava, Tejasvi Niranjan, Melanie M May, et al.
The Journal of Biological Chemistry|March 18, 2017
Identification and characterization of a missense mutation in the <i>O</i>-linked β-<i>N</i>-acetylglucosamine (<i>O</i>-GlcNAc) transferase gene that segregates with X-linked intellectual disabilityKrithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, et al.
European Journal of Medical Genetics|June 13, 2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsMark A Corbett, Samantha J Turner, Alison Gardner, et al.
Journal of Medical Genetics|July 22, 2016
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrumMateja Smogavec, Alison Cleall, Juliane Hoyer, et al.
Plos Genetics|April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
Epilepsy Research|November 5, 2016
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?Kristin A Rigbye, Peter M van Hasselt, Rosemary Burgess, et al.
American Journal of Human Genetics|August 28, 2010
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Mark A Corbett, Melanie Bahlo, Lachlan Jolly, et al.
Pageof 25

Showing results (111-120 of 245) with videos related to

Sort By:
Pageof 25
European Journal of Human Genetics : EJHG|February 22, 2020
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferaseVeronica M Pravata, Michaela Omelková, Marios P Stavridis, et al.
Human Mutation|June 12, 2019
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairmentAngélique Quartier, Jérémie Courraud, Thuong Thi Ha, et al.
Epigenomics|October 4, 2024
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newbornsMohammed Alshawsh, Melissa Wake, Jozef Gecz, et al.
Molecular Genetics & Genomic Medicine|February 8, 2019
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disordersSiddharth Srivastava, Tejasvi Niranjan, Melanie M May, et al.
The Journal of Biological Chemistry|March 18, 2017
Identification and characterization of a missense mutation in the <i>O</i>-linked β-<i>N</i>-acetylglucosamine (<i>O</i>-GlcNAc) transferase gene that segregates with X-linked intellectual disabilityKrithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, et al.
European Journal of Medical Genetics|June 13, 2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsMark A Corbett, Samantha J Turner, Alison Gardner, et al.
Journal of Medical Genetics|July 22, 2016
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrumMateja Smogavec, Alison Cleall, Juliane Hoyer, et al.
Plos Genetics|April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
Epilepsy Research|November 5, 2016
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?Kristin A Rigbye, Peter M van Hasselt, Rosemary Burgess, et al.
American Journal of Human Genetics|August 28, 2010
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Mark A Corbett, Melanie Bahlo, Lachlan Jolly, et al.
Pageof 25