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International Journal of Molecular Sciences
|
July 29, 2025
Association of First-Trimester Maternal Biomarkers with Preeclampsia and Related Maternal and Fetal Severe Adverse Events
Ana Camacho-Carrasco, Jorge Montenegro-Martínez, María Luisa Miranda-Guisado, et al.
Journal of Medical Genetics
|
December 19, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Alba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, et al.
Journal of Clinical Medicine
|
May 28, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Sofia Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque, et al.
Annals of Clinical and Translational Neurology
|
May 2, 2024
Epilepsy in Duchenne and Becker muscular dystrophies
Jesus Alfonso Armijo Gómez, Miguel A Fernandez-Garcia, Ana Camacho, et al.
The Pediatric Infectious Disease Journal
|
June 14, 2025
Brain Abnormalities, Neurodevelopmental Milestones, and Long-term Follow-up in Newborns With Congenital Cytomegalovirus Identified Through a Neonatal Screening Program
Sara Vila-Bedmar, Ana Martinez de Aragon Calvo, Constanza Liebana-Rojas, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)
Alessia Micalizzi, Andrea Poretti, Marta Romani, et al.
Frontiers in Neuroscience
|
November 30, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients
Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, et al.
The Lancet. Neurology
|
December 20, 2024
Differential diagnosis and comparison of diagnostic algorithms in children and adolescents with autoimmune encephalitis in Spain: a prospective cohort study and retrospective analysis
Gemma Olivé-Cirera, Elianet Fonseca, Li-Wen Chen, et al.
Scientific Reports
|
July 29, 2017
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Rafael Sivera, Marina Frasquet, Vincenzo Lupo, et al.
Genes
|
April 30, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
Ana Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin, et al.
Page
of 10
Search research articles
Search
Showing results (81-90 of 99) with videos related to
Sort By:
Page
of 10
International Journal of Molecular Sciences
|
July 29, 2025
Association of First-Trimester Maternal Biomarkers with Preeclampsia and Related Maternal and Fetal Severe Adverse Events
Ana Camacho-Carrasco, Jorge Montenegro-Martínez, María Luisa Miranda-Guisado, et al.
Journal of Medical Genetics
|
December 19, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Alba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, et al.
Journal of Clinical Medicine
|
May 28, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Sofia Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque, et al.
Annals of Clinical and Translational Neurology
|
May 2, 2024
Epilepsy in Duchenne and Becker muscular dystrophies
Jesus Alfonso Armijo Gómez, Miguel A Fernandez-Garcia, Ana Camacho, et al.
The Pediatric Infectious Disease Journal
|
June 14, 2025
Brain Abnormalities, Neurodevelopmental Milestones, and Long-term Follow-up in Newborns With Congenital Cytomegalovirus Identified Through a Neonatal Screening Program
Sara Vila-Bedmar, Ana Martinez de Aragon Calvo, Constanza Liebana-Rojas, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)
Alessia Micalizzi, Andrea Poretti, Marta Romani, et al.
Frontiers in Neuroscience
|
November 30, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients
Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, et al.
The Lancet. Neurology
|
December 20, 2024
Differential diagnosis and comparison of diagnostic algorithms in children and adolescents with autoimmune encephalitis in Spain: a prospective cohort study and retrospective analysis
Gemma Olivé-Cirera, Elianet Fonseca, Li-Wen Chen, et al.
Scientific Reports
|
July 29, 2017
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Rafael Sivera, Marina Frasquet, Vincenzo Lupo, et al.
Genes
|
April 30, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
Ana Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin, et al.
Page
of 10