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Journal of Inherited Metabolic Disease
|
October 14, 2025
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring
Florencia Epifani, Lluc Cabus, Gregorio A Nolasco, et al.
Journal of Medical Genetics
|
November 23, 2018
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Antonio Martinez-Monseny, Daniel Cuadras, Mercè Bolasell, et al.
International Journal of Molecular Sciences
|
June 2, 2021
<i>CACNA1A</i> Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
Antonio F Martínez-Monseny, Albert Edo, Dídac Casas-Alba, et al.
Journal of Child Neurology
|
August 18, 2009
Neuropsychiatric manifestations in late-onset urea cycle disorder patients
Mercedes Serrano, Cecilia Martins, Belén Pérez-Dueñas, et al.
Journal of Inherited Metabolic Disease
|
September 21, 2010
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
Elisa De Grandis, Mercedes Serrano, Belén Pérez-Dueñas, et al.
Cellular and Molecular Life Sciences : CMLS
|
June 27, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, et al.
Mitochondrion
|
April 15, 2010
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
Mercedes Serrano, María Teresa García-Silva, Elena Martin-Hernandez, et al.
American Journal of Medical Genetics. Part A
|
July 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder
Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, et al.
Orphanet Journal of Rare Diseases
|
November 25, 2025
Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study
Emily Liebling, Caroline Freychet, Valentina Guarnieri, et al.
Molecular Genetics and Metabolism
|
June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Page
of 11
Search research articles
Search
Showing results (71-80 of 107) with videos related to
Sort By:
Page
of 11
Journal of Inherited Metabolic Disease
|
October 14, 2025
Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring
Florencia Epifani, Lluc Cabus, Gregorio A Nolasco, et al.
Journal of Medical Genetics
|
November 23, 2018
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Antonio Martinez-Monseny, Daniel Cuadras, Mercè Bolasell, et al.
International Journal of Molecular Sciences
|
June 2, 2021
<i>CACNA1A</i> Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
Antonio F Martínez-Monseny, Albert Edo, Dídac Casas-Alba, et al.
Journal of Child Neurology
|
August 18, 2009
Neuropsychiatric manifestations in late-onset urea cycle disorder patients
Mercedes Serrano, Cecilia Martins, Belén Pérez-Dueñas, et al.
Journal of Inherited Metabolic Disease
|
September 21, 2010
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
Elisa De Grandis, Mercedes Serrano, Belén Pérez-Dueñas, et al.
Cellular and Molecular Life Sciences : CMLS
|
June 27, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, et al.
Mitochondrion
|
April 15, 2010
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
Mercedes Serrano, María Teresa García-Silva, Elena Martin-Hernandez, et al.
American Journal of Medical Genetics. Part A
|
July 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder
Gerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, et al.
Orphanet Journal of Rare Diseases
|
November 25, 2025
Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study
Emily Liebling, Caroline Freychet, Valentina Guarnieri, et al.
Molecular Genetics and Metabolism
|
June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Page
of 11