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BMC Pulmonary Medicine|August 26, 2022
Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practiceJincey D Sriram, Irma van de Beek, Paul C Johannesma, et al.British Journal of Cancer|October 10, 2002
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approachJ J P Gille, F B L Hogervorst, G Pals, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|August 28, 2018
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the NetherlandsJeannette E Dankert-Roelse, Marelle J Bouva, Bernadette S Jakobs, et al.European Journal of Human Genetics : EJHG|September 19, 2019
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policyDiantha Terlouw, Manon Suerink, Sunny S Singh, et al.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.Pageof 14