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Carmen Fons

Showing results (41-50 of 58) with videos related to

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International Journal of Molecular Sciences|December 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers SyndromeSofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque, et al.
Journal of Child Neurology|August 18, 2009
Neuropsychiatric manifestations in late-onset urea cycle disorder patientsMercedes Serrano, Cecilia Martins, Belén Pérez-Dueñas, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 28, 2011
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patientsCarmen Fons, Jaume Campistol, Eleni Panagiotakaki, et al.
Journal of Inherited Metabolic Disease|September 21, 2010
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disordersElisa De Grandis, Mercedes Serrano, Belén Pérez-Dueñas, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 10, 2023
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhoodMaria K Sentmanat, Maria T Papadopoulou, Lyndsey Prange, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|June 25, 2024
Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD SyndromeAna Beatriz Serafim, Gemma Olivé-Cirera, Ángel Ortega-González, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Brain Communications|August 16, 2021
Alternating hemiplegia of childhood: evolution over time and mouse model corroborationJulie Uchitel, Keri Wallace, Linh Tran, et al.
Orphanet Journal of Rare Diseases|October 28, 2015
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessmentMercedes Serrano, Víctor de Diego, Jordi Muchart, et al.
Clinical Chemistry|September 27, 2024
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and MedicationHelena Rodriguez-Gonzalez, Aida Ormazabal, Mercedes Casado, et al.
Pageof 6

Showing results (41-50 of 58) with videos related to

Sort By:
Pageof 6
International Journal of Molecular Sciences|December 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers SyndromeSofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque, et al.
Journal of Child Neurology|August 18, 2009
Neuropsychiatric manifestations in late-onset urea cycle disorder patientsMercedes Serrano, Cecilia Martins, Belén Pérez-Dueñas, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 28, 2011
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patientsCarmen Fons, Jaume Campistol, Eleni Panagiotakaki, et al.
Journal of Inherited Metabolic Disease|September 21, 2010
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disordersElisa De Grandis, Mercedes Serrano, Belén Pérez-Dueñas, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 10, 2023
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhoodMaria K Sentmanat, Maria T Papadopoulou, Lyndsey Prange, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|June 25, 2024
Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD SyndromeAna Beatriz Serafim, Gemma Olivé-Cirera, Ángel Ortega-González, et al.
American Journal of Human Genetics|September 10, 2020
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope IntegrityFrancesca Cristofoli, Tonya Moss, Hannah W Moore, et al.
Brain Communications|August 16, 2021
Alternating hemiplegia of childhood: evolution over time and mouse model corroborationJulie Uchitel, Keri Wallace, Linh Tran, et al.
Orphanet Journal of Rare Diseases|October 28, 2015
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessmentMercedes Serrano, Víctor de Diego, Jordi Muchart, et al.
Clinical Chemistry|September 27, 2024
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and MedicationHelena Rodriguez-Gonzalez, Aida Ormazabal, Mercedes Casado, et al.
Pageof 6