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Epileptic Disorders : International Epilepsy Journal with Videotape
|
January 20, 2012
Reflex seizures in Rett syndrome
Ana Roche Martínez, M Itziar Alonso Colmenero, Andreia Gomes Pereira, et al.
Molecular Genetics & Genomic Medicine
|
June 18, 2019
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
Silvia Vidal, Ainhoa Pascual-Alonso, Marc Rabaza-Gairí, et al.
Ophthalmic Genetics
|
September 17, 2020
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency
Cristina Del-Prado-Sánchez, Judith Armstrong-Moron, Carla Veiga, et al.
BMC Medical Genetics
|
March 7, 2018
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
María López, Alberto García-Oguiza, Judith Armstrong, et al.
Scientific Reports
|
August 21, 2019
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Clara Xiol, Silvia Vidal, Ainhoa Pascual-Alonso, et al.
International Journal of Molecular Sciences
|
January 21, 2023
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1
Dolores Piniella, Ania Canseco, Silvia Vidal, et al.
Developmental Medicine and Child Neurology
|
March 27, 2018
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Daniel Cuadras, et al.
Plos One
|
June 1, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
Dèlia Yubero, Núria Brandi, Aida Ormazabal, et al.
Biomedicines
|
February 6, 2021
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy
Alba-Aina Castells, Rafel Balada, Alba Tristán-Noguero, et al.
International Journal of Molecular Sciences
|
January 18, 2020
Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
Alfonso Oyarzabal, Clara Xiol, Alba Aina Castells, et al.
Page
of 9
Search research articles
Search
Showing results (21-30 of 86) with videos related to
Sort By:
Page
of 9
Epileptic Disorders : International Epilepsy Journal with Videotape
|
January 20, 2012
Reflex seizures in Rett syndrome
Ana Roche Martínez, M Itziar Alonso Colmenero, Andreia Gomes Pereira, et al.
Molecular Genetics & Genomic Medicine
|
June 18, 2019
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
Silvia Vidal, Ainhoa Pascual-Alonso, Marc Rabaza-Gairí, et al.
Ophthalmic Genetics
|
September 17, 2020
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency
Cristina Del-Prado-Sánchez, Judith Armstrong-Moron, Carla Veiga, et al.
BMC Medical Genetics
|
March 7, 2018
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
María López, Alberto García-Oguiza, Judith Armstrong, et al.
Scientific Reports
|
August 21, 2019
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Clara Xiol, Silvia Vidal, Ainhoa Pascual-Alonso, et al.
International Journal of Molecular Sciences
|
January 21, 2023
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1
Dolores Piniella, Ania Canseco, Silvia Vidal, et al.
Developmental Medicine and Child Neurology
|
March 27, 2018
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Daniel Cuadras, et al.
Plos One
|
June 1, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism
Dèlia Yubero, Núria Brandi, Aida Ormazabal, et al.
Biomedicines
|
February 6, 2021
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy
Alba-Aina Castells, Rafel Balada, Alba Tristán-Noguero, et al.
International Journal of Molecular Sciences
|
January 18, 2020
Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
Alfonso Oyarzabal, Clara Xiol, Alba Aina Castells, et al.
Page
of 9