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European Journal of Human Genetics : EJHG|March 3, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-upPerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
Journal of Gastroenterology|February 3, 2011
A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumoursIsabelle Hostein, Maria Debiec-Rychter, Sylvianne Olschwang, et al.
Human Mutation|June 30, 2020
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation abilityGodelieve Morel, Céline Duhamel, Simon Boussion, et al.
European Journal of Medical Genetics|June 4, 2011
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counsellingAli Houeijeh, Joris Andrieux, Pascale Saugier-Veber, et al.
Neuro-Oncology|December 14, 2019
CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomasRomain Appay, Caroline Dehais, Claude-Alain Maurage, et al.
The Lancet. Oncology|March 14, 2016
Clinical effect of molecular methods in sarcoma diagnosis (GENSARC): a prospective, multicentre, observational studyAntoine Italiano, Ilaria Di Mauro, Jocelyn Rapp, et al.
Histopathology|May 14, 2022
Comprehensive study of nine novel cases of TFEB-amplified renal cell carcinoma: an aggressive tumour with frequent PDL1 expressionSolène-Florence Kammerer-Jacquet, Camille Gandon, Frederic Dugay, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, et al.
Cancer Biomarkers : Section a of Disease Markers|August 12, 2017
Clinical validation of the CE-IVD marked Therascreen MGMT kit in a cohort of glioblastoma patientsVéronique Quillien, Audrey Lavenu, François Ducray, et al.
Oncotarget|August 20, 2016
Validation of the high-performance of pyrosequencing for clinical MGMT testing on a cohort of glioblastoma patients from a prospective dedicated multicentric trialVéronique Quillien, Audrey Lavenu, François Ducray, et al.
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