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European Journal of Medical Genetics|July 2, 2013
Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9pIris Bartels, Irene Pütz, Nadine Reintjes, et al.Plos One|March 26, 2013
Activating somatic FGFR2 mutations in breast cancerNadine Reintjes, Yun Li, Alexandra Becker, et al.Human Genetics|January 24, 2024
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromesJulia Schmidt, Silke Kaulfuß, Hagen Ott, et al.Clinical Nephrology|May 16, 2017
A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndromeKathrin Ebner, Nadine Reintjes, Markus Feldkötter, et al.BMC Medical Genetics|May 14, 2017
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancerMalte P Bartram, Tripti Mishra, Nadine Reintjes, et al.EMBO Molecular Medicine|June 9, 2023
TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfectaJulia Etich, Oliver Semler, Nicola L Stevenson, et al.Plos Genetics|April 5, 2014
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemiaFrancisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, et al.European Journal of Human Genetics : EJHG|July 12, 2012
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategiesBodo B Beck, Anne Baasner, Anja Buescher, et al.American Journal of Human Genetics|October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaShahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.Pageof 1