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Publications by Ania Koziell

TBC1D8B Loss-Of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

American Journal of Human Genetics

English

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

Related publications

Novel Characteristics of a Trafficking-Defective G572r-hERG Channel Linked to Hereditary Long QT Syndrome

Canadian Journal of Cardiology

Cardiovascular Medicine

English

Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

American Journal of Human Genetics

English

Trafficking Defective Mutations Modulate NaV1.5 N—Glycosylation States

Biophysical Journal

English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

English

Distinct Mutations and Pathways Are Linked to Aromatase Inhibitor Response

Cancer Discovery

English

Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome

Journal of Biological Chemistry

Molecular Biology

English

BMP4 Loss-Of-Function Mutations in Developmental Eye Disorders Including SHORT Syndrome

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

An Unusual Cause for Nephrotic Syndrome: Nephrotic Syndrome Due to Metformin

Turkish Nephrology, Dialysis and Transplantation Journal

English