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Mercedes Serrano

Showing results (101-110 of 107) with videos related to

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BMJ Open|June 4, 2024
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registryMadeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, et al.
Clinical Genetics|January 20, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers SyndromeLaura Trujillano, Irene Valenzuela, Mar Costa-Roger, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
Frontiers in Cell and Developmental Biology|March 20, 2024
Developmental outcome of electroencephalographic findings in <i>SYNGAP1</i> encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.
Frontiers in Cell and Developmental Biology|June 3, 2026
Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.
Neurobiology of Disease|March 19, 2026
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathySelena Aranda, Juliana Ribeiro-Constante, Alba Tristán-Noguero, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Pageof 11

Showing results (101-110 of 107) with videos related to

Sort By:
Pageof 11
You have reached the last page of results.This site can display upto 107 results.
BMJ Open|June 4, 2024
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registryMadeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, et al.
Clinical Genetics|January 20, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers SyndromeLaura Trujillano, Irene Valenzuela, Mar Costa-Roger, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
Frontiers in Cell and Developmental Biology|March 20, 2024
Developmental outcome of electroencephalographic findings in <i>SYNGAP1</i> encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.
Frontiers in Cell and Developmental Biology|June 3, 2026
Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathyJuliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, et al.
Neurobiology of Disease|March 19, 2026
Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathySelena Aranda, Juliana Ribeiro-Constante, Alba Tristán-Noguero, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Pageof 11