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Publications by Katrin Õunap
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
American Journal of Human Genetics
Genetics
Defective DNA Polymerase Α-Primase Leads to X-Linked Intellectual Disability Associated With Severe Growth Retardation, Microcephaly, and Hypogonadism
American Journal of Human Genetics
Genetics
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency
European Journal of Human Genetics
Genetics
An Intellectual Disability Syndrome With Single-Nucleotide Variants in O-GlcNAc Transferase
European Journal of Human Genetics
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
International Clinical Guidelines for the Management of Phosphomannomutase 2-Congenital Disorders of Glycosylation: Diagnosis, Treatment and Follow Up
Journal of Inherited Metabolic Disease
Genetics
FLAD1 ‐associated Multiple Acyl‐CoA Dehydrogenase Deficiency Identified by Newborn Screening
Molecular genetics & genomic medicine
Genetics
Molecular Biology
A Prenatally Diagnosed Case of Meckel-Gruber Syndrome With Novel Compound Heterozygous Pathogenic Variants in the TXNDC15 Gene
Molecular genetics & genomic medicine
Genetics
Molecular Biology
The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver–Russell Syndrome and Beckwith–Wiedemann Syndrome
Genetic Testing and Molecular Biomarkers
Medicine
Genetics
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