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Movement Disorders : Official Journal of the Movement Disorder Society
|
March 4, 2010
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation
Roser Pons, Mercedes Serrano, Aida Ormazabal, et al.
Orphanet Journal of Rare Diseases
|
August 23, 2012
Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases
Manuel Armayones, M Antònia Vilaseca, Júlia Cutillas, et al.
Orphanet Journal of Rare Diseases
|
September 17, 2017
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, et al.
Glycobiology
|
August 22, 2021
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies
Antonio Parrado, Gonzalo Rubio, Mercedes Serrano, et al.
International Journal of Molecular Sciences
|
September 28, 2023
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported Phenotype
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, et al.
Archives of Neurology
|
May 11, 2011
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects
Belén Pérez-Dueñas, Aida Ormazábal, Claudio Toma, et al.
Mitochondrion
|
July 13, 2011
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients
Mireia Tondo, Ignácio Málaga, Mar O'Callaghan, et al.
European Journal of Gastroenterology & Hepatology
|
April 21, 2012
Nonanesthesiologist-administered propofol sedation for colonoscopy is safe and effective: a prospective Spanish study over 1000 consecutive exams
Alfredo J Lucendo, Antonio Olveira, Ana Belén Friginal-Ruiz, et al.
Journal of Thrombosis and Haemostasis : JTH
|
July 5, 2019
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
Tiffany Pascreau, Maria E de la Morena-Barrio, Dominique Lasne, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, et al.
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Search research articles
Search
Showing results (61-70 of 107) with videos related to
Sort By:
Page
of 11
Movement Disorders : Official Journal of the Movement Disorder Society
|
March 4, 2010
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation
Roser Pons, Mercedes Serrano, Aida Ormazabal, et al.
Orphanet Journal of Rare Diseases
|
August 23, 2012
Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases
Manuel Armayones, M Antònia Vilaseca, Júlia Cutillas, et al.
Orphanet Journal of Rare Diseases
|
September 17, 2017
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, et al.
Glycobiology
|
August 22, 2021
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies
Antonio Parrado, Gonzalo Rubio, Mercedes Serrano, et al.
International Journal of Molecular Sciences
|
September 28, 2023
Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported Phenotype
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, et al.
Archives of Neurology
|
May 11, 2011
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects
Belén Pérez-Dueñas, Aida Ormazábal, Claudio Toma, et al.
Mitochondrion
|
July 13, 2011
Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients
Mireia Tondo, Ignácio Málaga, Mar O'Callaghan, et al.
European Journal of Gastroenterology & Hepatology
|
April 21, 2012
Nonanesthesiologist-administered propofol sedation for colonoscopy is safe and effective: a prospective Spanish study over 1000 consecutive exams
Alfredo J Lucendo, Antonio Olveira, Ana Belén Friginal-Ruiz, et al.
Journal of Thrombosis and Haemostasis : JTH
|
July 5, 2019
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
Tiffany Pascreau, Maria E de la Morena-Barrio, Dominique Lasne, et al.
American Journal of Medical Genetics. Part A
|
April 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, et al.
Page
of 11