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Publications by Saskia B. Wortmann
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy
American Journal of Human Genetics
Genetics
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
American Journal of Human Genetics
Genetics
Brain Imaging in Classic Nonketotic Hyperglycinemia: Quantitative Analysis and Relation to Phenotype
Journal of Inherited Metabolic Disease
Genetics
A Scoring System Predicting the Clinical Course of CLPB Defect Based on the Foetal and Neonatal Presentation of 31 Patients
Journal of Inherited Metabolic Disease
Genetics
3-Methylglutaconic Aciduria—lessons From 50 Genes and 977 Patients
Journal of Inherited Metabolic Disease
Genetics
Leucine Loading Test Is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome With Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes