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Journal of Inherited Metabolic Disease
|
March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendations
Stefan Kölker, Ernst Christensen, James V Leonard, et al.
Orphanet Journal of Rare Diseases
|
March 16, 2019
Betaine anhydrous in homocystinuria: results from the RoCH registry
Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, et al.
Orphanet Journal of Rare Diseases
|
October 28, 2015
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
Mercedes Serrano, Víctor de Diego, Jordi Muchart, et al.
Molecular Genetics and Metabolism
|
June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, 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 Medication
Helena Rodriguez-Gonzalez, Aida Ormazabal, Mercedes Casado, et al.
Human Mutation
|
January 23, 2014
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients
Angels García-Cazorla, Alfonso Oyarzabal, Joana Fort, et al.
European Journal of Human Genetics : EJHG
|
February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatment
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.
Neurology
|
January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Agatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Human Mutation
|
February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
Journal of Inherited Metabolic Disease
|
July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutations
Nadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 62) with videos related to
Sort By:
Page
of 7
Journal of Inherited Metabolic Disease
|
March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendations
Stefan Kölker, Ernst Christensen, James V Leonard, et al.
Orphanet Journal of Rare Diseases
|
March 16, 2019
Betaine anhydrous in homocystinuria: results from the RoCH registry
Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, et al.
Orphanet Journal of Rare Diseases
|
October 28, 2015
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
Mercedes Serrano, Víctor de Diego, Jordi Muchart, et al.
Molecular Genetics and Metabolism
|
June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, 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 Medication
Helena Rodriguez-Gonzalez, Aida Ormazabal, Mercedes Casado, et al.
Human Mutation
|
January 23, 2014
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients
Angels García-Cazorla, Alfonso Oyarzabal, Joana Fort, et al.
European Journal of Human Genetics : EJHG
|
February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q<sub>10</sub> deficiency: long-term follow-up after treatment
Marivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.
Neurology
|
January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Agatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Human Mutation
|
February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome
Mark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
Journal of Inherited Metabolic Disease
|
July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutations
Nadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.
Page
of 7