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Movement Disorders : Official Journal of the Movement Disorder Society
|
July 11, 2012
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency
Mercedes Serrano, Mónica Rebollo, Christel Depienne, et al.
Neuropediatrics
|
October 11, 2018
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Débora Itzep, Antonio F Martínez-Monseny, Mercè Bolasell, et al.
Frontiers in Pediatrics
|
June 18, 2026
Correction: Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
Lourdes Vega-Hannah, Mario Sanz-Cuesta, Didac Casas-Alba, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 6, 2011
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype
Aida Ormazabal, Mercedes Serrano, Angels Garcia-Cazorla, et al.
Molecular Genetics and Metabolism
|
February 26, 2008
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients
Aida Ormazabal, Marcus Oppenheim, Mercedes Serrano, et al.
Clinical Dysmorphology
|
August 17, 2018
Mutation of PACS1: the milder end of the spectrum
Antonio Martinez-Monseny, Mercè Bolasell, Cesar Arjona, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 27, 2009
Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging
Belén Pérez-Dueñas, Alberto De La Osa, Antoni Capdevila, et al.
Mitochondrion
|
June 19, 2008
Mitochondrial diseases mimicking neurotransmitter defects
Angels Garcia-Cazorla, Sofia Duarte, Mercedes Serrano, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Okur-Chung neurodevelopmental syndrome in a patient from Spain
Antonio F Martinez-Monseny, Dídac Casas-Alba, César Arjona, et al.
Human Mutation
|
September 4, 2018
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations
Dídac Casas-Alba, Antonio Martínez-Monseny, Rosa M Pino-Ramírez, et al.
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of 11
Search research articles
Search
Showing results (41-50 of 107) with videos related to
Sort By:
Page
of 11
Movement Disorders : Official Journal of the Movement Disorder Society
|
July 11, 2012
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency
Mercedes Serrano, Mónica Rebollo, Christel Depienne, et al.
Neuropediatrics
|
October 11, 2018
Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG
Débora Itzep, Antonio F Martínez-Monseny, Mercè Bolasell, et al.
Frontiers in Pediatrics
|
June 18, 2026
Correction: Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study
Lourdes Vega-Hannah, Mario Sanz-Cuesta, Didac Casas-Alba, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 6, 2011
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype
Aida Ormazabal, Mercedes Serrano, Angels Garcia-Cazorla, et al.
Molecular Genetics and Metabolism
|
February 26, 2008
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients
Aida Ormazabal, Marcus Oppenheim, Mercedes Serrano, et al.
Clinical Dysmorphology
|
August 17, 2018
Mutation of PACS1: the milder end of the spectrum
Antonio Martinez-Monseny, Mercè Bolasell, Cesar Arjona, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 27, 2009
Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging
Belén Pérez-Dueñas, Alberto De La Osa, Antoni Capdevila, et al.
Mitochondrion
|
June 19, 2008
Mitochondrial diseases mimicking neurotransmitter defects
Angels Garcia-Cazorla, Sofia Duarte, Mercedes Serrano, et al.
American Journal of Medical Genetics. Part A
|
November 16, 2019
Okur-Chung neurodevelopmental syndrome in a patient from Spain
Antonio F Martinez-Monseny, Dídac Casas-Alba, César Arjona, et al.
Human Mutation
|
September 4, 2018
Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations
Dídac Casas-Alba, Antonio Martínez-Monseny, Rosa M Pino-Ramírez, et al.
Page
of 11