Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Anna Wedell
Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
American Journal of Human Genetics
Genetics
Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Absence of TXNIP in Human Gives Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate
Diabetes
Internal Medicine
Endocrinology
Metabolism
Diabetes
A Novel Phenotype in N-Glycosylation Disorders: Gillessen-Kaesbach–Nishimura Skeletal Dysplasia Due to Pathogenic Variants in ALG9
European Journal of Human Genetics
Genetics
Respiratory Chain Complex III Deficiency Due to Mutated BCS1L: A Novel Phenotype With Encephalomyopathy, Partially Phenocopied in a Bcs1l Mutant Mouse Model
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Mutations in the Mitochondrial Tryptophanyl‐tRNA Synthetase Cause Growth Retardation and Progressive Leukoencephalopathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Characterization of Deletions at 9p Affecting the Candidate Regions for Sex Reversal and Deletion 9p Syndrome by MLPA
European Journal of Human Genetics
Genetics
