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Jozef Gecz

Showing results (141-150 of 245) with videos related to

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American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Human disease genes website series: An international, open and dynamic library for up-to-date clinical informationAlexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, et al.
Life Science Alliance|January 31, 2023
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performanceMira Brazane, Dilyana G Dimitrova, Julien Pigeon, et al.
Human Mutation|September 10, 2015
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual DisabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 9, 2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansYe Wu, Amy C Arai, Gavin Rumbaugh, et al.
European Journal of Human Genetics : EJHG|December 24, 2009
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesAnna Hackett, Patrick S Tarpey, Andrea Licata, et al.
Ebiomedicine|March 15, 2026
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohortsJodi T Thomas, Alexander S F Berry, Matthew T Oetjens, et al.
Human Genetics|September 5, 2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor geneMinaka Ishibashi, Elizabeth Manning, Cheryl Shoubridge, et al.
Human Molecular Genetics|July 1, 2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiencyChuan Tan, Chloe Shard, Enzo Ranieri, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.
Pageof 25

Showing results (141-150 of 245) with videos related to

Sort By:
Pageof 25
American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
Human disease genes website series: An international, open and dynamic library for up-to-date clinical informationAlexander J M Dingemans, Diante E Stremmelaar, Lisenka E L M Vissers, et al.
Life Science Alliance|January 31, 2023
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performanceMira Brazane, Dilyana G Dimitrova, Julien Pigeon, et al.
Human Mutation|September 10, 2015
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual DisabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 9, 2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansYe Wu, Amy C Arai, Gavin Rumbaugh, et al.
European Journal of Human Genetics : EJHG|December 24, 2009
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesAnna Hackett, Patrick S Tarpey, Andrea Licata, et al.
Ebiomedicine|March 15, 2026
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohortsJodi T Thomas, Alexander S F Berry, Matthew T Oetjens, et al.
Human Genetics|September 5, 2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor geneMinaka Ishibashi, Elizabeth Manning, Cheryl Shoubridge, et al.
Human Molecular Genetics|July 1, 2015
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiencyChuan Tan, Chloe Shard, Enzo Ranieri, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.
Pageof 25