21 results on '"Ki, Chang Seok"'
Search Results
2. Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1
3. Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome
4. Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2
5. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
6. Erratum to: Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
7. Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis
8. The proportion of uniparental disomy is increased in Prader–Willi syndrome due to an advanced maternal childbearing age in Korea
9. Erratum: Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome
10. Erratum: Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing
11. Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing
12. Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population
13. Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome
14. Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
15. Identification and characterization of NF1splicing mutations in Korean patients with neurofibromatosis type 1
16. Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.
17. Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
18. Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
19. The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
20. A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.
21. Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
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