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American Journal of Medical Genetics. Part A|September 24, 2015
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancyKlane K White, Viviana Bompadre, Michael J Goldberg, et al.Journal of Medical Genetics|November 2, 2010
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variantTatsuya Furuichi, Jin Dai, Tae-Joon Cho, et al.American Journal of Medical Genetics. Part A|April 23, 2015
Frontometaphyseal dysplasia and keloid formation without FLNA mutationsHanneke Basart, Annekatrien van de Kar, Lesley Adès, et al.Clinics in Orthopedic Surgery|December 2, 2014
Anterior knee pain in patients with cerebral palsyYoung Choi, Sang Hyeong Lee, Chin Youb Chung, et al.European Journal of Medical Genetics|July 9, 2013
An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian familyByung-Joo Min, Jung Min Ko, Myung-Eui Seo, et al.American Journal of Medical Genetics. Part A|March 16, 2012
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patientsTae-Joon Cho, Kazu Matsumoto, Virginia Fano, et al.Journal of Biomedical Optics|May 8, 2024
Hyperspectral dark-field microscopy of human breast lumpectomy samples for tumor margin detection in breast-conserving surgeryJeeseong Hwang, Philip Cheney, Stephen C Kanick, et al.American Journal of Obstetrics and Gynecology|July 27, 2018
Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasiaRavi Savarirayan, Judith P Rossiter, Julie E Hoover-Fong, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Axial spondylometaphyseal dysplasia: additional reportsShigeru Suzuki, Ok-Hwa Kim, Yoshio Makita, et al.Journal of Human Genetics|March 18, 2011
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasiaJin Dai, Ok-Hwa Kim, Tae-Joon Cho, et al.Pageof 25