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Publications by Friedhelm Hildebrandt

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics

English

FAN1 Mutations Cause Karyomegalic Interstitial Nephritis, Linking Chronic Kidney Failure to Defective DNA Damage Repair

Nature Genetics

English

Author Correction: The Copy Number Variation Landscape of Congenital Anomalies of the Kidney and Urinary Tract

Nature Genetics

English

MYO1EMutations and Childhood Familial Focal Segmental Glomerulosclerosis

New England Journal of Medicine

English

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

American Journal of Human Genetics

English

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

American Journal of Human Genetics

English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

English

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

American Journal of Human Genetics

English

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

American Journal of Human Genetics

English

Mutations in Six Nephrosis Genes Delineate a Pathogenic Pathway Amenable to Treatment

Nature Communications

Molecular Biology

English