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1.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genet Med
; 26(5): 101101, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38362852
2.
Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
Am J Med Genet A
; 185(12): 3851-3858, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34328706
3.
Gonadales und gonadosomatisches Neurofibromatose-Typ-1-Mosaik: ein Bericht über zwei Familien: Gonadal and gonadosomatic mosaicism in NF1: report of two families.
J Dtsch Dermatol Ges
; 22(3): 426-429, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38450814
4.
Gonadal and gonadosomatic mosaicism in NF1: report of two families.
J Dtsch Dermatol Ges
; 22(3): 426-428, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38185792
5.
PBRM1 mutations might render a subtype of biliary tract cancers sensitive to drugs targeting the DNA damage repair system.
NPJ Precis Oncol
; 7(1): 64, 2023 Jul 03.
Article
in English
| MEDLINE | ID: mdl-37400502
6.
Array genotyping as diagnostic approach in medical genetics.
Mol Genet Genomic Med
; 10(9): e2016, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35912641
7.
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Biomolecules
; 12(10)2022 Sep 22.
Article
in English
| MEDLINE | ID: mdl-36291559
8.
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Eur J Med Genet
; 65(12): 104632, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36270489
9.
Ca2+/Calmodulin-dependent kinase II signaling causes skeletal overgrowth and premature chondrocyte maturation.
Dev Biol
; 317(1): 132-46, 2008 May 01.
Article
in English
| MEDLINE | ID: mdl-18342847
10.
Oncotyrol--Center for Personalized Cancer Medicine: Methods and Applications of Health Technology Assessment and Outcomes Research.
Z Evid Fortbild Qual Gesundhwes
; 109(4-5): 330-40, 2015.
Article
in English
| MEDLINE | ID: mdl-26354133
11.
Screening for MAPK modulators using an in-cell western assay.
Methods Mol Biol
; 1120: 121-9, 2014.
Article
in English
| MEDLINE | ID: mdl-24470022
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