Identification of four novel RB1 germline mutations in Korean retinoblastoma patientsYoung Suk Yu; Il-Jin Kim; Ja-Lok Ku; Jae-Gahb Park · 2001

Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patientsVuillaumier-Barrot, S. · Journal of Medical Genetics · 2000

Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in Type I patientsHorsford, Jonathan; Saadi, Irfan; Raelson, John; Goodyer, Paul R; Rozen, Rima · 1996

Identification of protein Sα gene mutations including four novel mutations in eight unrelated patients with protein S deficiencyHiromi Okada; Akira Takagi; Takashi Murate; Tatsuya Adachi; Koji Yamamoto; Tadashi Matsushita; Junki Takamatsu; Kanji Sugita; Mitsuhiko Sugimoto; Akira Yoshioka; Tomio Yamazaki; Hidehiko Saito; Tetsuhito Kojima · 2004

Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411S. Hande Çaǧlayan; Erica Vielhaber; Türkiz Gürsel; Gülten Aktuǧlu; Steve S. Sommer · 1994

Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: Identification of four novel truncating mutationsMercedes Duran; Eva Esteban-Cardeñosa; Eladio Velasco; Mar Infante; Cristina Miner · 2003

Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patientsZhang, Yan; Yang, Weikang; Wen, Guoming; Wu, Yanxia; Jing, Zhiliang; Li, Dazhou; Tang, Minshan; Liu, Guanglong; Wei, Xuxuan; Zhong, Yan; Li, Yanhua; Deng, Yongjian · Molecular Genetics & Genomic Medicine · 2019