Search research articles
Contact Us
Filters
Showing results (41-50 of 86) with videos related to
Page
of 9
Sort By:
European Journal of Medical Genetics
|
January 30, 2022
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient
Anastasia Martinez-Esteve Melnikova, Jordi Pijuan, Javier Aparicio, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 10, 2025
Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study
Micaela Chinigioli, Laura Martí-Sanchez, Delia Yubero, et al.
Neurology. Genetics
|
December 22, 2017
<i>CDKL5</i> variants: Improving our understanding of a rare neurologic disorder
Ralph D Hector, Vera M Kalscheuer, Friederike Hennig, et al.
International Journal of Molecular Sciences
|
April 30, 2021
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases
Dèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, et al.
Plos One
|
July 30, 2013
Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome
Sofia Temudo Duarte, Judith Armstrong, Ana Roche, et al.
Clinical Case Reports
|
April 28, 2023
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, et al.
Genes
|
August 28, 2025
Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome
David Foz Felipe, Dídac Casas-Alba, Sara H Sadok, et al.
Parkinsonism & Related Disorders
|
August 28, 2021
Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness
Alejandra Darling, Pilar Irún, Pilar Giraldo, et al.
Research in Autism Spectrum Disorders
|
December 19, 2013
InterRett, a model for international data collection in a rare genetic disorder
Sandra Louise, Sue Fyfe, Ami Bebbington, et al.
Journal of Human Genetics
|
August 19, 2016
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Montesclaros Hortigüela, Ana Fernández-Marmiesse, Verónica Cantarín, et al.
Page
of 9
Search research articles
Search
Showing results (41-50 of 86) with videos related to
Sort By:
Page
of 9
European Journal of Medical Genetics
|
January 30, 2022
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient
Anastasia Martinez-Esteve Melnikova, Jordi Pijuan, Javier Aparicio, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 10, 2025
Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study
Micaela Chinigioli, Laura Martí-Sanchez, Delia Yubero, et al.
Neurology. Genetics
|
December 22, 2017
<i>CDKL5</i> variants: Improving our understanding of a rare neurologic disorder
Ralph D Hector, Vera M Kalscheuer, Friederike Hennig, et al.
International Journal of Molecular Sciences
|
April 30, 2021
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases
Dèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, et al.
Plos One
|
July 30, 2013
Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome
Sofia Temudo Duarte, Judith Armstrong, Ana Roche, et al.
Clinical Case Reports
|
April 28, 2023
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, et al.
Genes
|
August 28, 2025
Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome
David Foz Felipe, Dídac Casas-Alba, Sara H Sadok, et al.
Parkinsonism & Related Disorders
|
August 28, 2021
Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness
Alejandra Darling, Pilar Irún, Pilar Giraldo, et al.
Research in Autism Spectrum Disorders
|
December 19, 2013
InterRett, a model for international data collection in a rare genetic disorder
Sandra Louise, Sue Fyfe, Ami Bebbington, et al.
Journal of Human Genetics
|
August 19, 2016
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Montesclaros Hortigüela, Ana Fernández-Marmiesse, Verónica Cantarín, et al.
Page
of 9