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The Journal of Investigative Dermatology|July 6, 2007
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 familiesEdward M Leter, A Karijn Koopmans, Johan J P Gille, et al.Journal of Medical Genetics|November 8, 2011
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in womenMuriel A Adank, Marianne A Jonker, Irma Kluijt, et al.Cancer Research|April 3, 2003
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative methodFrans B L Hogervorst, Petra M Nederlof, Johan J P Gille, et al.Kidney International|September 10, 2015
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidneyRik Westland, Miguel Verbitsky, Katarina Vukojevic, et al.Journal of the American Academy of Dermatology|July 29, 2011
Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locusTheo M Starink, Arjan C Houweling, Martijn B A van Doorn, et al.Familial Cancer|December 25, 2012
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluationFred H Menko, Paul C Johannesma, R Jeroen A van Moorselaar, et al.Journal of Medical Genetics|April 18, 2013
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertensionWilhelmina S Kerstjens-Frederikse, Ernie M H F Bongers, Marcus T R Roofthooft, et al.Clinical Genetics|May 31, 2008
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genesF H Menko, C M F Kneepkens, N de Leeuw, et al.BMJ Open|October 9, 2024
Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2Maartje A C Schreurs, Muriel A Adank, Antoinette Hollestelle, et al.Gastroenterology|June 10, 2004
Relative frequency and morphology of cancers in STK11 mutation carriersWendy Lim, Sylviane Olschwang, Josbert J Keller, et al.Pageof 11