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Jozef Gecz

Showing results (61-70 of 244) with videos related to

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Epilepsy Research|March 4, 2023
Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsyJoseph Sullivan, Boudewijn Gunning, Muhammad Zafar, et al.
Trends in Genetics : TIG|June 13, 2003
Nonsyndromic X-linked mental retardation: where are the missing mutations?Hans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, et al.
Human Molecular Genetics|July 16, 2020
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networksDeepti Domingo, Urwah Nawaz, Mark Corbett, et al.
American Journal of Medical Genetics. Part A|March 18, 2009
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian familyKathryn P Burdon, Shane R Durkin, Mary Burke, et al.
Epilepsy Research|March 13, 2024
Corrigendum to "Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy" [Epilepsy Res. (2023) 191 107112]Joseph Sullivan, Boudewijn Gunning, Muhammad Zafar, et al.
Public Health Genomics|September 19, 2021
People with Cerebral Palsy and Their Family's Preferences about Genomics ResearchYana Alexandra Wilson, Sarah McIntyre, Emma Waight, et al.
Translational Psychiatry|January 27, 2024
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsyRebekah de Nys, Clare L van Eyk, Tarin Ritchie, et al.
Translational Psychiatry|April 24, 2018
Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autismClare L van Eyk, Mark A Corbett, Alison Gardner, et al.
Scientific Reports|December 11, 2025
TMT-based quantitative proteomic assessment of Vicia sativa induced neurotoxicity by β-cyano-L-alanine and γ-glutamyl-β-cyano-L-alanine in SH-SY5Y cellsSamuel Riley, Vy Nguyen, Rudrarup Bhattacharjee, et al.
American Journal of Human Genetics|December 3, 2016
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa SyndromeFuxi Zhu, Fengsong Wang, Xiaoyu Yang, et al.
Pageof 25

Showing results (61-70 of 244) with videos related to

Sort By:
Pageof 25
Epilepsy Research|March 4, 2023
Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsyJoseph Sullivan, Boudewijn Gunning, Muhammad Zafar, et al.
Trends in Genetics : TIG|June 13, 2003
Nonsyndromic X-linked mental retardation: where are the missing mutations?Hans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, et al.
Human Molecular Genetics|July 16, 2020
A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networksDeepti Domingo, Urwah Nawaz, Mark Corbett, et al.
American Journal of Medical Genetics. Part A|March 18, 2009
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian familyKathryn P Burdon, Shane R Durkin, Mary Burke, et al.
Epilepsy Research|March 13, 2024
Corrigendum to "Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy" [Epilepsy Res. (2023) 191 107112]Joseph Sullivan, Boudewijn Gunning, Muhammad Zafar, et al.
Public Health Genomics|September 19, 2021
People with Cerebral Palsy and Their Family's Preferences about Genomics ResearchYana Alexandra Wilson, Sarah McIntyre, Emma Waight, et al.
Translational Psychiatry|January 27, 2024
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsyRebekah de Nys, Clare L van Eyk, Tarin Ritchie, et al.
Translational Psychiatry|April 24, 2018
Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autismClare L van Eyk, Mark A Corbett, Alison Gardner, et al.
Scientific Reports|December 11, 2025
TMT-based quantitative proteomic assessment of Vicia sativa induced neurotoxicity by β-cyano-L-alanine and γ-glutamyl-β-cyano-L-alanine in SH-SY5Y cellsSamuel Riley, Vy Nguyen, Rudrarup Bhattacharjee, et al.
American Journal of Human Genetics|December 3, 2016
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa SyndromeFuxi Zhu, Fengsong Wang, Xiaoyu Yang, et al.
Pageof 25