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BMJ Open
|
June 4, 2024
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry
Madeleine 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 Syndrome
Laura 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 up
Ruqaiah 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> encephalopathy
Juliana 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 encephalopathy
Juliana 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 encephalopathy
Selena Aranda, Juliana Ribeiro-Constante, Alba Tristán-Noguero, et al.
American Journal of Human Genetics
|
June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Paulina Cunha, Emilien Petit, Marie Coutelier, et al.
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Search research articles
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Showing results (101-110 of 107) with videos related to
Sort By:
Page
of 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 registry
Madeleine 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 Syndrome
Laura 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 up
Ruqaiah 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> encephalopathy
Juliana 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 encephalopathy
Juliana 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 encephalopathy
Selena Aranda, Juliana Ribeiro-Constante, Alba Tristán-Noguero, et al.
American Journal of Human Genetics
|
June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Paulina Cunha, Emilien Petit, Marie Coutelier, et al.
Page
of 11