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Jozef Gecz

Showing results (191-200 of 245) with videos related to

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American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
Neurology|January 24, 2016
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationZaid Afawi, Karen L Oliver, Sara Kivity, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsSandra Whalen, Marie Shaw, Cyril Mignot, et al.
American Journal of Human Genetics|April 17, 2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusF Lucy Raymond, Patrick S Tarpey, Sarah Edkins, et al.
Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.
American Journal of Human Genetics|February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticityAlina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
Pageof 25

Showing results (191-200 of 245) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
Neurology|January 24, 2016
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationZaid Afawi, Karen L Oliver, Sara Kivity, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsSandra Whalen, Marie Shaw, Cyril Mignot, et al.
American Journal of Human Genetics|April 17, 2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusF Lucy Raymond, Patrick S Tarpey, Sarah Edkins, et al.
Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
Nature Communications|July 15, 2022
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in miceSalima El Chehadeh, Kyung Ah Han, Dongwook Kim, et al.
American Journal of Human Genetics|February 2, 2022
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticityAlina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, et al.
Pageof 25