Sul Y - Search Results

1

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.

Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD. Chen DH, et al. Among authors: sul y. Hum Mutat. 2013 Dec;34(12):1672-8. doi: 10.1002/humu.22437. Epub 2013 Oct 2. Hum Mutat. 2013. PMID: 24027063 Free PMC article.

2

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Chen DH, et al. Among authors: sul y. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009. Am J Hum Genet. 2016. PMID: 27259050 Free PMC article.

3

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

Chen DH, Sul Y, Weiss M, Hillel A, Lipe H, Wolff J, Matsushita M, Raskind W, Bird T. Chen DH, et al. Among authors: sul y. Neurology. 2010 Nov 30;75(22):1968-75. doi: 10.1212/WNL.0b013e3181ffe4bb. Neurology. 2010. PMID: 21115951 Free PMC article.

4

Evidence for involvement of GNB1L in autism.

Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z. Chen YZ, et al. Among authors: sul y. Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):61-71. doi: 10.1002/ajmg.b.32002. Epub 2011 Nov 16. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22095694 Free PMC article.

5

Alpha-defensin-dependent enhancement of enteric viral infection.

Wilson SS, Bromme BA, Holly MK, Wiens ME, Gounder AP, Sul Y, Smith JG. Wilson SS, et al. Among authors: sul y. PLoS Pathog. 2017 Jun 16;13(6):e1006446. doi: 10.1371/journal.ppat.1006446. eCollection 2017 Jun. PLoS Pathog. 2017. PMID: 28622386 Free PMC article.

6

Defensin-driven viral evolution.

Diaz K, Hu CT, Sul Y, Bromme BA, Myers ND, Skorohodova KV, Gounder AP, Smith JG. Diaz K, et al. Among authors: sul y. PLoS Pathog. 2020 Nov 24;16(11):e1009018. doi: 10.1371/journal.ppat.1009018. eCollection 2020 Nov. PLoS Pathog. 2020. PMID: 33232373 Free PMC article.

7

An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy.

Fenichel GM, Sul YC, Kilroy AW, Blouin R. Fenichel GM, et al. Among authors: sul yc. Neurology. 1982 Dec;32(12):1399-401. doi: 10.1212/wnl.32.12.1399. Neurology. 1982. PMID: 6890649 No abstract available.

8

Neurogenic arthrogryposis in one identical twin.

Sul YC, Mrak RE, Evans OB, Fenichel GM. Sul YC, et al. Arch Neurol. 1982 Nov;39(11):717-8. doi: 10.1001/archneur.1982.00510230043012. Arch Neurol. 1982. PMID: 6889849 No abstract available.

9

Mean corpuscular volume as a prognostic factor for 30-day mortality in major trauma patients: a retrospective cohort study.

Choi H, Lee JY, Sul Y, Kim SH, Ye JB, Lee JS, Yoon SY, Seok J, Choi JH. Choi H, et al. Among authors: sul y. Sci Rep. 2024 Feb 17;14(1):3951. doi: 10.1038/s41598-024-54057-1. Sci Rep. 2024. PMID: 38365858 Free PMC article.

10

Successful endovascular treatment of an obstruction following the surgical repair of a traumatic portal vein injury: a case report.

Lee JS, Lee JY, Sul Y, Kim SH, Ye JB, Yoon SY, Seok J, Han J, Choi JH, Kim HR, Kim Y. Lee JS, et al. Among authors: sul y. J Int Med Res. 2023 Dec;51(12):3000605231218954. doi: 10.1177/03000605231218954. J Int Med Res. 2023. PMID: 38140951 Free PMC article.

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