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Jozef Gecz

Showing results (171-180 of 245) with videos related to

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Human Genetics|July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.
Nature Communications|February 8, 2024
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopmentRudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, et al.
Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
Medrxiv : the Preprint Server for Health Sciences|March 23, 2026
Novel <i>PCDH12</i> pathogenic missense variants cause neurodevelopmental disorders with ocular malformationJennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar, et al.
Human Molecular Genetics|January 11, 2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAsif Ali, Paul T Christie, Irina V Grigorieva, et al.
Nature Medicine|May 1, 2024
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsyYangong Wang, Yiran Xu, Chongchen Zhou, et al.
American Journal of Human Genetics|June 9, 2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationPatrick Tarpey, Josep Parnau, Matthew Blow, et al.
American Journal of Human Genetics|November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial FeaturesElizabeth E Palmer, Renee Carroll, Marie Shaw, et al.
Journal of Child Neurology|April 10, 2019
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral PalsyAlastair H MacLennan, Sara Lewis, Andres Moreno-De-Luca, et al.
Pageof 25

Showing results (171-180 of 245) with videos related to

Sort By:
Pageof 25
Human Genetics|July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.
Nature Communications|February 8, 2024
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopmentRudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, et al.
Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
Medrxiv : the Preprint Server for Health Sciences|March 23, 2026
Novel <i>PCDH12</i> pathogenic missense variants cause neurodevelopmental disorders with ocular malformationJennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar, et al.
Human Molecular Genetics|January 11, 2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAsif Ali, Paul T Christie, Irina V Grigorieva, et al.
Nature Medicine|May 1, 2024
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsyYangong Wang, Yiran Xu, Chongchen Zhou, et al.
American Journal of Human Genetics|June 9, 2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationPatrick Tarpey, Josep Parnau, Matthew Blow, et al.
American Journal of Human Genetics|November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial FeaturesElizabeth E Palmer, Renee Carroll, Marie Shaw, et al.
Journal of Child Neurology|April 10, 2019
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral PalsyAlastair H MacLennan, Sara Lewis, Andres Moreno-De-Luca, et al.
Pageof 25