D. Böckenhauer

发表

R. Kleta, M. Reichold, A. Zdebik, 2011, Der Nephrologe.

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

F. Anglani, V. Tasic, M. Litwin, 2015, Pediatric Nephrology.

DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.

J. Kere, L. Pelletier, N. Sebire, 2015, American journal of human genetics.

CHAPTER 32 – Diabetes Insipidus

D. Böckenhauer, 2008 .

Dent-2 disease: a mild variant of Lowe syndrome.

V. Tasic, H. Cheong, B. Hoppe, 2009, The Journal of pediatrics.

Rituximab versus cyclophosphamide as first steroid-sparing agent in childhood frequently relapsing and steroid-dependent nephrotic syndrome

O. Safdar, J. Kari, A. Albanna, 2020, Pediatric Nephrology.

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia

H. Uhlig, R. Kleta, S. Grünewald, 2023, Human Genetics.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

A. Paterson, H. Prokisch, S. Levy, 2013, The Journal of clinical investigation.

A Premature Termination Mutation in a Patient with Lowe Syndrome without Congenital Cataracts: Dropping the “O” in OCRL

M. Born, V. Tasic, M. Refke, 2012, Klinische Pädiatrie.

Novel OCRL mutations in patients with Dent-2 disease

T. Sirimanna, R. Unwin, M. Nuutinen, 2012, Journal of Pediatric Genetics.

Progression of Mineral Ion Abnormalities in Patients with Jansen ’ s Metaphyseal 1 Chondrodysplasia 2 3

Gardella, R. Pauli, H. Jüppner, 2018 .

ADCK 4 mutations promote steroid-resistant nephrotic syndrome through CoQ 10 biosynthesis disruption

A. Paterson, H. Prokisch, S. Levy, 2018 .

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

H. Schulze, P. Oefner, L. Tabernero, 2022, Journal of the American Society of Nephrology : JASN.