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European Journal of Human Genetics : EJHG
|
October 12, 2025
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders
Karen J Low, Julia Foreman, Rachel J Hobson, et al.
Epilepsia
|
June 2, 2026
Add-on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss-of-function γ-aminobutyric acid type A receptor variants
Cathrine E Gjerulfsen, Vivian W Y Liao, Tomasz S Mieszczanek, et al.
Human Genetics
|
January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
Kohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
February 26, 2026
Continuing education course on genetic epilepsies was held by the Chilean society of epileptology
Sebastián Silva-Soto, Eduardo Pérez-Palma, Rikke Møller, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome
Aya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
American Journal of Human Genetics
|
June 8, 2022
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
Vardha Ismail, Linda G Zachariassen, Annie Godwin, et al.
Journal of Medical Genetics
|
November 15, 2022
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, et al.
Molecular Psychiatry
|
June 13, 2022
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human
Shi-Xiao Peng, Jingwen Pei, Berardo Rinaldi, et al.
Epilepsia Open
|
July 28, 2023
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Nathan Buijsse, Floor E Jansen, Charlotte W Ockeloen, et al.
Clinical Genetics
|
May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
Page
of 13
Search research articles
Search
Showing results (71-80 of 130) with videos related to
Sort By:
Page
of 13
European Journal of Human Genetics : EJHG
|
October 12, 2025
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders
Karen J Low, Julia Foreman, Rachel J Hobson, et al.
Epilepsia
|
June 2, 2026
Add-on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss-of-function γ-aminobutyric acid type A receptor variants
Cathrine E Gjerulfsen, Vivian W Y Liao, Tomasz S Mieszczanek, et al.
Human Genetics
|
January 15, 2022
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant
Kohei Hamanaka, Keita Miyoshi, Jia-Hui Sun, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
February 26, 2026
Continuing education course on genetic epilepsies was held by the Chilean society of epileptology
Sebastián Silva-Soto, Eduardo Pérez-Palma, Rikke Møller, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome
Aya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
American Journal of Human Genetics
|
June 8, 2022
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
Vardha Ismail, Linda G Zachariassen, Annie Godwin, et al.
Journal of Medical Genetics
|
November 15, 2022
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, et al.
Molecular Psychiatry
|
June 13, 2022
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human
Shi-Xiao Peng, Jingwen Pei, Berardo Rinaldi, et al.
Epilepsia Open
|
July 28, 2023
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Nathan Buijsse, Floor E Jansen, Charlotte W Ockeloen, et al.
Clinical Genetics
|
May 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, et al.
Page
of 13