Ha IS - Search Results

1

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY. Cheon CK, et al. Among authors: ha is. J Hum Genet. 2014 Jun;59(6):321-5. doi: 10.1038/jhg.2014.25. Epub 2014 Apr 17. J Hum Genet. 2014. PMID: 24739679

2

Cardiac dysfunction after renal transplantation; incomplete resolution in pediatric population.

Kim GB, Kwon BS, Kang HG, Ha JW, Ha IS, Noh CI, Choi JY, Kim SJ, Yun YS, Bae EJ. Kim GB, et al. Among authors: ha jw, ha is. Transplantation. 2009 Jun 15;87(11):1737-43. doi: 10.1097/TP.0b013e3181a63f2f. Transplantation. 2009. PMID: 19502969

3

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

Kang HG, Lee HK, Ahn YH, Joung JG, Nam J, Kim NK, Ko JM, Cho MH, Shin JI, Kim J, Park HW, Park YS, Ha IS, Chung WY, Lee DY, Kim SY, Park WY, Cheong HI. Kang HG, et al. Among authors: ha is. Exp Mol Med. 2016 Aug 5;48(8):e251. doi: 10.1038/emm.2016.63. Exp Mol Med. 2016. PMID: 27491411 Free PMC article.

4

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome.

Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI. Kang HG, et al. Among authors: ha is. Exp Mol Med. 2017 Dec 15;49(12):e414. doi: 10.1038/emm.2017.227. Exp Mol Med. 2017. PMID: 29244787 Free PMC article.

5

Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation.

Park PG, Park E, Hyun HS, Kang HG, Ha IS, Cho TJ, Ko JM, Cheong HI. Park PG, et al. Among authors: ha is. Ann Clin Lab Sci. 2018 Sep;48(5):665-669. Ann Clin Lab Sci. 2018. PMID: 30373874

6

WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.

Cho HY, Lee JH, Choi HJ, Lee BH, Ha IS, Choi Y, Cheong HI. Cho HY, et al. Among authors: ha is. Pediatr Nephrol. 2008 Jan;23(1):63-70. doi: 10.1007/s00467-007-0620-1. Epub 2007 Oct 13. Pediatr Nephrol. 2008. PMID: 17934764

7

Variable phenotype of Pierson syndrome.

Choi HJ, Lee BH, Kang JH, Jeong HJ, Moon KC, Ha IS, Yu YS, Matejas V, Zenker M, Choi Y, Cheong HI. Choi HJ, et al. Among authors: ha is. Pediatr Nephrol. 2008 Jun;23(6):995-1000. doi: 10.1007/s00467-008-0748-7. Pediatr Nephrol. 2008. PMID: 18278520

8

Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.

Lee JH, Choi HJ, Lee BH, Kang HK, Chin HJ, Yoon HJ, Ha IS, Kim S, Choi Y, Cheong HI. Lee JH, et al. Among authors: ha is. Nephrology (Carlton). 2008 Dec;13(8):661-6. doi: 10.1111/j.1440-1797.2008.01029.x. Epub 2008 Nov 17. Nephrology (Carlton). 2008. PMID: 19019168

9

Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.

Lee BH, Ahn YH, Choi HJ, Kang HK, Kim SD, Cho BS, Moon KC, Ha IS, Cheong HI, Choi Y. Lee BH, et al. Among authors: ha is. J Korean Med Sci. 2009 Jan;24 Suppl(Suppl 1):S210-4. doi: 10.3346/jkms.2009.24.S1.S210. Epub 2009 Jan 28. J Korean Med Sci. 2009. PMID: 19194555 Free PMC article.

10

Clinico-genetic study of nail-patella syndrome.

Lee BH, Cho TJ, Choi HJ, Kang HK, Lim IS, Park YH, Ha IS, Choi Y, Cheong HI. Lee BH, et al. Among authors: ha is. J Korean Med Sci. 2009 Jan;24 Suppl(Suppl 1):S82-6. doi: 10.3346/jkms.2009.24.S1.S82. Epub 2009 Jan 28. J Korean Med Sci. 2009. PMID: 19194568 Free PMC article.

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