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Oncology Letters|March 16, 2018
Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literatureNatalie Herold, Barbara Wappenschmidt, Birgid Markiefka, et al.
Human Genetics|July 16, 2013
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndromeEsther Pohl, Ayca Aykut, Filippo Beleggia, et al.
Molecular Genetics & Genomic Medicine|July 27, 2019
Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragilityKatharina Keupp, Stephanie Hampp, Annette Hübbel, et al.
Human Genetics|August 29, 2013
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutationJulia Schreml, Burak Durmaz, Ozgur Cogulu, et al.
American Journal of Human Genetics|August 7, 2012
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callusOliver Semler, Lutz Garbes, Katharina Keupp, et al.
Gesundheitswesen (Bundesverband Der Arzte Des Offentlichen Gesundheitsdienstes (Germany))|November 3, 2021
[HerediCaRe: Documentation and IT Solution of a Specialized Registry for Hereditary Breast and Ovarian Cancer]Christoph Engel, Kerstin Wieland, Silke Zachariae, et al.
American Journal of Human Genetics|April 10, 2012
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafishP V Asharani, Katharina Keupp, Oliver Semler, et al.
Human Genetics|May 25, 2011
A mutation screen in patients with Kabuki syndromeYun Li, Nina Bögershausen, Yasemin Alanay, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosisKatharina Keupp, Yun Li, Ibrahim Vargel, et al.
The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.
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