Nadine Reintjes

Kerpener Str. 62
Koeln, NW 50937, Germany

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.

Journal: Human genetics
Published: March 24, 2023

TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.

TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta.

Journal: EMBO molecular medicine
Published: February 17, 2023

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Journal: American journal of human genetics
Published: May 24, 2019

A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome
.

A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome
.

Journal: Clinical nephrology
Published: May 16, 2017

Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.

Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.

Journal: BMC medical genetics
Published: October 26, 2016

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

Journal: PLoS genetics
Published: November 10, 2013

Activating somatic FGFR2 mutations in breast cancer.

Activating somatic FGFR2 mutations in breast cancer.

Journal: PloS one
Published: November 02, 2012

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.

Journal: European journal of human genetics : EJHG
Published: July 12, 2012
Showing 1-8 of 8

Last Updated: 09/26/2026