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Publications by Pinar Bayrak-Toydemir
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Impaired PIEZO1 Function in Patients With a Novel Autosomal Recessive Congenital Lymphatic Dysplasia
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Inactivating Mutations in Drosha Mediate Vascular Abnormalities Similar to Hereditary Hemorrhagic Telangiectasia
Science Signaling
Biochemistry
Cell Biology
Molecular Biology
Characterization of a Family Mutation in the 5’ Untranslated Region of the Endoglin Gene Causative of Hereditary Hemorrhagic Telangiectasia
Journal of Human Genetics
Genetics
Cystic Fibrosis Testing in a Referral Laboratory: Results and Lessons From a Six-Year Period
Journal of Clinical Bioinformatics
Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation
Journal of Data Mining in Genomics & Proteomics
