P1.19 Mutational spectrum and clinical features of Korean patients with dysferlinopathy

2010 ◽  
Vol 20 (9-10) ◽  
pp. 605-606
Author(s):  
Y.E. Park ◽  
J.W. Yook ◽  
H.S. Kim ◽  
Y.C. Choi ◽  
D.S. Kim
Keyword(s):  
Clinical Features ◽  
Korean Patients ◽  
Mutational Spectrum

scholarly journals Clinical Features of Benign Essential Blepharospasm in Korean Patients

2018 ◽  
Vol 32 (5) ◽  
pp. 339 ◽  
Author(s):  
Jeong Min Lee ◽  
Ji Sun Baek ◽  
Hye Sun Choi ◽  
Sung Joo Kim ◽  
Jae Woo Jang
Keyword(s):  
Clinical Features ◽  
Korean Patients ◽  
Essential Blepharospasm

scholarly journals Genetic Analysis of Three Korean Patients with Clinical Features of Ehlers-Danlos Syndrome Type IV

2007 ◽  
Vol 22 (4) ◽  
pp. 698 ◽  
Author(s):  
Jeong Hoon Yang ◽  
Seung-Tae Lee ◽  
Jee-Ah Kim ◽  
Sung Hae Kim ◽  
Shin-Yi Jang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Features ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Korean Patients ◽  
Type Iv ◽  
Danlos Syndrome

scholarly journals Clinical Features of Korean Patients with Congenital Aniridia

2010 ◽  
Vol 24 (5) ◽  
pp. 291 ◽  
Author(s):  
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Young Gun Park ◽  
Mee Yon Lee ◽  
Man Soo Kim
Keyword(s):  
Clinical Features ◽  
Korean Patients ◽  
Congenital Aniridia

scholarly journals Erratum: Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome

2012 ◽  
Vol 57 (6) ◽  
pp. 398-398
Author(s):  
Jeong Hoon Yang ◽  
Chang-Seok Ki ◽  
Hyejin Han ◽  
Bong Gun Song ◽  
Shin Yi Jang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Features ◽  
Korean Patients

Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities

2015 ◽  
Vol 37 (4) ◽  
pp. 402-408 ◽  
Author(s):  
Jin Sook Lee ◽  
Christine K Byun ◽  
Hunmin Kim ◽  
Byung Chan Lim ◽  
Hee Hwang ◽  
...  
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Brain Mri ◽  
Korean Patients ◽  
Mutational Spectrum

scholarly journals Clinical Features and Mutations in the ENG, ACVRL1, and SMAD4 genes in Korean Patients with Hereditary Hemorrhagic Telangiectasia

2009 ◽  
Vol 24 (1) ◽  
pp. 69 ◽  
Author(s):  
Seung-Tae Lee ◽  
Jee-Ah Kim ◽  
Shin-Yi Jang ◽  
Duk-Kyung Kim ◽  
Young Soo Do ◽  
...  
Keyword(s):  
Clinical Features ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Korean Patients
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