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Thrombosis and Haemostasis
|
March 6, 2020
Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood
Anna Ruiz-Llobet, Ignacio Isola, Susanna Gassiot, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
April 10, 2024
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG
Diana Gallego, Mercedes Serrano, Jose Cordoba-Caballero, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 8, 2013
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency
Roser Pons, Dimitris Syrengelas, Sotiris Youroukos, et al.
Orphanet Journal of Rare Diseases
|
June 25, 2014
Thiamine transporter-2 deficiency: outcome and treatment monitoring
Juan Darío Ortigoza-Escobar, Mercedes Serrano, Marta Molero, et al.
Journal of Inherited Metabolic Disease
|
September 22, 2010
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
Belén Pérez-Dueñas, Claudio Toma, Aida Ormazábal, et al.
Clinical Biochemistry
|
March 15, 2011
Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency
Aida Ormazábal, Belén Perez-Dueñas, Cristina Sierra, et al.
Pediatric Radiology
|
August 21, 2007
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
Mercedes Serrano, Isabel Lizarraga, Jochen Reiss, et al.
Molecular Genetics and Metabolism
|
August 19, 2007
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis
Marta Ribasés, Mercedes Serrano, Emilio Fernández-Alvarez, et al.
Plos One
|
October 28, 2016
Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, et al.
Plos One
|
July 15, 2016
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, et al.
Page
of 11
Search research articles
Search
Showing results (31-40 of 107) with videos related to
Sort By:
Page
of 11
Thrombosis and Haemostasis
|
March 6, 2020
Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood
Anna Ruiz-Llobet, Ignacio Isola, Susanna Gassiot, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
April 10, 2024
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG
Diana Gallego, Mercedes Serrano, Jose Cordoba-Caballero, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 8, 2013
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency
Roser Pons, Dimitris Syrengelas, Sotiris Youroukos, et al.
Orphanet Journal of Rare Diseases
|
June 25, 2014
Thiamine transporter-2 deficiency: outcome and treatment monitoring
Juan Darío Ortigoza-Escobar, Mercedes Serrano, Marta Molero, et al.
Journal of Inherited Metabolic Disease
|
September 22, 2010
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
Belén Pérez-Dueñas, Claudio Toma, Aida Ormazábal, et al.
Clinical Biochemistry
|
March 15, 2011
Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency
Aida Ormazábal, Belén Perez-Dueñas, Cristina Sierra, et al.
Pediatric Radiology
|
August 21, 2007
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
Mercedes Serrano, Isabel Lizarraga, Jochen Reiss, et al.
Molecular Genetics and Metabolism
|
August 19, 2007
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis
Marta Ribasés, Mercedes Serrano, Emilio Fernández-Alvarez, et al.
Plos One
|
October 28, 2016
Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, et al.
Plos One
|
July 15, 2016
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)
Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, et al.
Page
of 11