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Jozef Gecz

Showing results (91-100 of 245) with videos related to

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American Journal of Human Genetics|December 19, 2012
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXLoredana Poeta, Francesca Fusco, Denise Drongitis, et al.
Developmental Medicine and Child Neurology|June 17, 2020
Definition and diagnosis of cerebral palsy in genetic studies: a systematic reviewRyan Pham, Ben W Mol, Jozef Gecz, et al.
BMC Medical Genetics|April 27, 2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneMonica L Stepp, A Lauren Cason, Merran Finnis, et al.
European Journal of Medical Genetics|October 27, 2019
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalitiesMarie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, et al.
Human Genetics|March 3, 2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionGuy Froyen, Marijke Bauters, Jackie Boyle, et al.
European Journal of Human Genetics : EJHG|April 19, 2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataractJohanna L Jones, Mark A Corbett, Elise Yeaman, et al.
American Journal of Human Genetics|September 16, 2020
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG ExpansionsParas Garg, Bharati Jadhav, Oscar L Rodriguez, et al.
American Journal of Human Genetics|August 5, 2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde Van Esch, Marijke Bauters, Jaakko Ignatius, et al.
European Journal of Human Genetics : EJHG|October 15, 2009
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlationSinitdhorn Rujirabanjerd, John Nelson, Patrick S Tarpey, et al.
The Journal of Molecular Diagnostics : JMD|June 10, 2021
Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCRTiming Liu, Furene S Wang, Felicia S H Cheah, et al.
Pageof 25

Showing results (91-100 of 245) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|December 19, 2012
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXLoredana Poeta, Francesca Fusco, Denise Drongitis, et al.
Developmental Medicine and Child Neurology|June 17, 2020
Definition and diagnosis of cerebral palsy in genetic studies: a systematic reviewRyan Pham, Ben W Mol, Jozef Gecz, et al.
BMC Medical Genetics|April 27, 2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneMonica L Stepp, A Lauren Cason, Merran Finnis, et al.
European Journal of Medical Genetics|October 27, 2019
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalitiesMarie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, et al.
Human Genetics|March 3, 2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionGuy Froyen, Marijke Bauters, Jackie Boyle, et al.
European Journal of Human Genetics : EJHG|April 19, 2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataractJohanna L Jones, Mark A Corbett, Elise Yeaman, et al.
American Journal of Human Genetics|September 16, 2020
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG ExpansionsParas Garg, Bharati Jadhav, Oscar L Rodriguez, et al.
American Journal of Human Genetics|August 5, 2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde Van Esch, Marijke Bauters, Jaakko Ignatius, et al.
European Journal of Human Genetics : EJHG|October 15, 2009
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlationSinitdhorn Rujirabanjerd, John Nelson, Patrick S Tarpey, et al.
The Journal of Molecular Diagnostics : JMD|June 10, 2021
Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCRTiming Liu, Furene S Wang, Felicia S H Cheah, et al.
Pageof 25