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Journal of Inherited Metabolic Disease
|
June 11, 2017
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Víctor de Diego, Antonio F Martínez-Monseny, Jordi Muchart, et al.
Journal of Personalized Medicine
|
August 27, 2021
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer
Elena Rojano, José Córdoba-Caballero, Fernando M Jabato, et al.
Orphanet Journal of Rare Diseases
|
November 1, 2024
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
Pedro Granjo, Carlota Pascoal, Diana Gallego, et al.
The Journal of Pediatrics
|
February 1, 2017
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
Celia Pérez-Cerdá, Ma Luisa Girós, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease
|
March 26, 2017
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Víctor de Diego, Antonio F Martínez-Monseny, Jordi Muchart, et al.
Orphanet Journal of Rare Diseases
|
October 10, 2020
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, et al.
Human Mutation
|
December 10, 2020
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications
Claudia Castiglioni, François Feillet, Christine Barnerias, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2020
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
Dídac Casas-Alba, Laura López-Sala, Marta Pérez-Ordóñez, 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.
European Journal of Gastroenterology & Hepatology
|
December 25, 2013
Same-day bidirectional endoscopy with nonanesthesiologist administration of propofol: safety and cost-effectiveness compared with separated exams
Alfredo J Lucendo, Ángel Arias, Sonia González-Castillo, et al.
Page
of 11
Search research articles
Search
Showing results (51-60 of 107) with videos related to
Sort By:
Page
of 11
Journal of Inherited Metabolic Disease
|
June 11, 2017
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Víctor de Diego, Antonio F Martínez-Monseny, Jordi Muchart, et al.
Journal of Personalized Medicine
|
August 27, 2021
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer
Elena Rojano, José Córdoba-Caballero, Fernando M Jabato, et al.
Orphanet Journal of Rare Diseases
|
November 1, 2024
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community
Pedro Granjo, Carlota Pascoal, Diana Gallego, et al.
The Journal of Pediatrics
|
February 1, 2017
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
Celia Pérez-Cerdá, Ma Luisa Girós, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease
|
March 26, 2017
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Víctor de Diego, Antonio F Martínez-Monseny, Jordi Muchart, et al.
Orphanet Journal of Rare Diseases
|
October 10, 2020
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
Raquel López-Gálvez, María Eugenia de la Morena-Barrio, Alberto López-Lera, et al.
Human Mutation
|
December 10, 2020
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications
Claudia Castiglioni, François Feillet, Christine Barnerias, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2020
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review
Dídac Casas-Alba, Laura López-Sala, Marta Pérez-Ordóñez, 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.
European Journal of Gastroenterology & Hepatology
|
December 25, 2013
Same-day bidirectional endoscopy with nonanesthesiologist administration of propofol: safety and cost-effectiveness compared with separated exams
Alfredo J Lucendo, Ángel Arias, Sonia González-Castillo, et al.
Page
of 11