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Neurofibromatosis type 2.
Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR. Asthagiri AR, et al. Among authors: kim hj. Lancet. 2009 Jun 6;373(9679):1974-86. doi: 10.1016/S0140-6736(09)60259-2. Epub 2009 May 22. Lancet. 2009. PMID: 19476995 Free PMC article. Review.
Tumors of the endolymphatic sac in von Hippel-Lindau disease.
Lonser RR, Kim HJ, Butman JA, Vortmeyer AO, Choo DI, Oldfield EH. Lonser RR, et al. Among authors: kim hj. N Engl J Med. 2004 Jun 10;350(24):2481-6. doi: 10.1056/NEJMoa040666. N Engl J Med. 2004. PMID: 15190140 Free article. No abstract available.
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.
Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Goldbach-Mansky R, et al. Among authors: kim hj. N Engl J Med. 2006 Aug 10;355(6):581-92. doi: 10.1056/NEJMoa055137. N Engl J Med. 2006. PMID: 16899778 Free PMC article.
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ. Choi BY, et al. Among authors: kim hj. Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884. Hum Mutat. 2009. PMID: 19204907 Free PMC article.
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