Yoon G - Search Results

1

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM. van Minkelen R, et al. Among authors: yoon g. BMC Med Genet. 2015 Aug 19;16:61. doi: 10.1186/s12881-015-0213-y. BMC Med Genet. 2015. PMID: 26285866 Free PMC article.

2

Ataxia and pancytopenia caused by a mutation in TINF2.

Tsangaris E, Adams SL, Yoon G, Chitayat D, Lansdorp P, Dokal I, Dror Y. Tsangaris E, et al. Among authors: yoon g. Hum Genet. 2008 Dec;124(5):507-13. doi: 10.1007/s00439-008-0576-7. Epub 2008 Nov 1. Hum Genet. 2008. PMID: 18979121

3

2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.

Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G. Chung BH, et al. Among authors: yoon g. Am J Med Genet A. 2011 Feb;155A(2):424-9. doi: 10.1002/ajmg.a.33821. Am J Med Genet A. 2011. PMID: 21271666

4

Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6.

Ghai SJ, Shago M, Shroff M, Yoon G. Ghai SJ, et al. Among authors: yoon g. Eur J Med Genet. 2011 May-Jun;54(3):272-6. doi: 10.1016/j.ejmg.2011.02.008. Epub 2011 Mar 2. Eur J Med Genet. 2011. PMID: 21376145

5

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE. Nezarati MM, et al. Among authors: yoon g. Am J Med Genet. 2002 Jun 15;110(2):103-8. doi: 10.1002/ajmg.10367. Am J Med Genet. 2002. PMID: 12116246

6

Mosaic microdeletion 18q21 as a cause of mental retardation.

Stavropoulos DJ, MacGregor DL, Yoon G. Stavropoulos DJ, et al. Among authors: yoon g. Eur J Med Genet. 2010 Nov-Dec;53(6):396-9. doi: 10.1016/j.ejmg.2010.08.005. Epub 2010 Sep 21. Eur J Med Genet. 2010. PMID: 20813211

7

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.

Yoon G, Westmacott R, Macmillan L, Quercia N, Koutsou P, Georghiou A, Christodoulou K, Banwell B. Yoon G, et al. BMJ Case Rep. 2009;2009:bcr08.2008.0688. doi: 10.1136/bcr.08.2008.0688. Epub 2009 Feb 2. BMJ Case Rep. 2009. PMID: 21686683 Free PMC article.

8

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Goh ES, et al. Among authors: yoon g. Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639462

9

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

Pagnamenta AT, Murray JE, Yoon G, Sadighi Akha E, Harrison V, Bicknell LS, Ajilogba K, Stewart H, Kini U, Taylor JC, Keays DA, Jackson AP, Knight SJ. Pagnamenta AT, et al. Among authors: yoon g. Am J Med Genet A. 2012 Oct;158A(10):2577-82. doi: 10.1002/ajmg.a.35558. Epub 2012 Aug 10. Am J Med Genet A. 2012. PMID: 22887808 Free PMC article.

10

Mosaic microdeletion of 17p11.2-p12 and duplication of 17q22-q24 in a girl with Smith-Magenis phenotype and peripheral neuropathy.

Goh ES, Banwell B, Stavropoulos DJ, Shago M, Yoon G. Goh ES, et al. Among authors: yoon g. Am J Med Genet A. 2014 Mar;164A(3):748-52. doi: 10.1002/ajmg.a.36322. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357149

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