Sohn YB - Search Results

1

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Cho SY, Chang YP, Park JY, Park HD, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Jin DK. Cho SY, et al. Among authors: sohn yb. Ann Clin Lab Sci. 2011 Spring;41(2):182-7. Ann Clin Lab Sci. 2011. PMID: 21844578

2

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.

Sohn YB, Park HD, Park SW, Kim SH, Cho SY, Ko AR, Ki CS, Yeau S, Jin DK. Sohn YB, et al. Ann Clin Lab Sci. 2012 Winter;42(1):89-93. Ann Clin Lab Sci. 2012. PMID: 22371915

3

Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence.

Kim D, Cho SY, Yeau SH, Park SW, Sohn YB, Kwon MJ, Kim JY, Ki CS, Jin DK. Kim D, et al. Among authors: sohn yb. J Korean Med Sci. 2012 May;27(5):565-8. doi: 10.3346/jkms.2012.27.5.565. Epub 2012 Apr 25. J Korean Med Sci. 2012. PMID: 22563226 Free PMC article.

4

Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.

Sohn YB, Ki CS, Park SW, Cho SY, Ko AR, Kwon MJ, Kim JY, Park HD, Kim OH, Jin DK. Sohn YB, et al. Ann Clin Lab Sci. 2012 Summer;42(3):307-12. Ann Clin Lab Sci. 2012. PMID: 22964620 Free article.

5

Clinical, biochemical, and genetic analysis of korean patients with pseudohypoparathyroidism type Ia.

Park CH, Park HD, Lee SY, Kim JW, Sohn YB, Park SW, Jin DK. Park CH, et al. Among authors: sohn yb. Ann Clin Lab Sci. 2010 Summer;40(3):261-6. Ann Clin Lab Sci. 2010. PMID: 20689139

6

Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.

Kim SH, Park HD, Sohn YB, Park SW, Cho SY, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Yeau S, Paik KH, Jin DK. Kim SH, et al. Among authors: sohn yb. Ann Clin Lab Sci. 2011 Fall;41(1):84-8. Ann Clin Lab Sci. 2011. PMID: 21325261

7

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.

Lee NH, Cho SY, Maeng SH, Jeon TY, Sohn YB, Kim SJ, Park HD, Jin DK. Lee NH, et al. Among authors: sohn yb. Korean J Pediatr. 2012 Nov;55(11):430-7. doi: 10.3345/kjp.2012.55.11.430. Epub 2012 Nov 23. Korean J Pediatr. 2012. PMID: 23227063 Free PMC article.

8

The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.

Cho SY, Ki CS, Sohn YB, Maeng SH, Jung YJ, Kim SJ, Jin DK. Cho SY, et al. Among authors: sohn yb. J Hum Genet. 2013 Mar;58(3):150-4. doi: 10.1038/jhg.2012.148. Epub 2013 Jan 10. J Hum Genet. 2013. PMID: 23303386

9

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

Park HD, Ko AR, Ki CS, Lee SY, Kim JW, Cho SY, Kim SH, Park SW, Sohn YB, Jin DK. Park HD, et al. Among authors: sohn yb. Am J Med Genet A. 2013 Mar;161A(3):509-17. doi: 10.1002/ajmg.a.35298. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401410

10

Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.

Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK. Cho SY, et al. Among authors: sohn yb. J Korean Med Sci. 2013 Jul;28(7):1107-10. doi: 10.3346/jkms.2013.28.7.1107. Epub 2013 Jul 3. J Korean Med Sci. 2013. PMID: 23853499 Free PMC article.

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