HuGE Literature Finder
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Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation. The British journal of dermatology 2019 Jun 180 (6): 1438-1448. Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn A-C, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont M-L, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé |
Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2012 Jun 5 (3): 317-26. Kaski Juan Pablo, Syrris Petros, Shaw Adam, Alapi Krisztina Zuborne, Cordeddu Viviana, Esteban Maria Teresa Tome, Jenkins Sharon, Ashworth Michael, Hammond Peter, Tartaglia Marco, McKenna William J, Elliott Perry |
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia. Annals of hematology 2012 Apr 91 (4): 511-7. Park Hyung-Doo, Lee Soo Hyun, Sung Ki Woong, Koo Hong Hoe, Jung Nak Gyun, Cho Bin, Kim Hak Ki, Park In-Ae, Lee Ki-O, Ki Chang-Seok, Kim Sun-Hee, Yoo Keon Hee, Kim Hee-J |
Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. European journal of medical genetics 0 53 (3): 117-21. Nyström Anna-Maja, Ekvall Sara, Thuresson Ann-Charlotte, Denayer Ellen, Legius Eric, Kamali-Moghaddam Masood, Westermark Bengt, Annerén Göran, Bondeson Marie-Loui |
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