Yoon G - Search Results

1

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G. Jobling RK, et al. Among authors: yoon g. Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25. Brain. 2015. PMID: 25808372 Free PMC article.

2

Neurological complications of cardio-facio-cutaneous syndrome.

Yoon G, Rosenberg J, Blaser S, Rauen KA. Yoon G, et al. Dev Med Child Neurol. 2007 Dec;49(12):894-9. doi: 10.1111/j.1469-8749.2007.00894.x. Dev Med Child Neurol. 2007. PMID: 18039235 Free article.

3

Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease.

Miller E, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S. Miller E, et al. Among authors: yoon g. Am J Med Genet A. 2010 Mar;152A(3):748-52. doi: 10.1002/ajmg.a.33305. Am J Med Genet A. 2010. PMID: 20186781

4

A case report of prenatal exposure to rosuvastatin and telmisartan.

Trakadis Y, Blaser S, Hahn CD, Yoon G. Trakadis Y, et al. Among authors: yoon g. Paediatr Child Health. 2009 Sep;14(7):450-2. Paediatr Child Health. 2009. PMID: 20808473 Free PMC article.

5

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

6

Cardiac transplantation in Friedreich ataxia.

Yoon G, Soman T, Wilson J, George K, Mital S, Dipchand AI, McCabe J, Logan W, Kantor P. Yoon G, et al. J Child Neurol. 2012 Sep;27(9):1193-6. doi: 10.1177/0883073812448229. Epub 2012 Jun 29. J Child Neurol. 2012. PMID: 22752490 Free PMC article. Review.

7

Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.

Al-Maawali A, Blaser S, Yoon G. Al-Maawali A, et al. Among authors: yoon g. J Child Neurol. 2012 Sep;27(9):1121-32. doi: 10.1177/0883073812448680. Epub 2012 Jul 4. J Child Neurol. 2012. PMID: 22764178 Free PMC article.

8

Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).

Al-Maawali AA, Miller E, Schulze A, Yoon G, Blaser SI. Al-Maawali AA, et al. Among authors: yoon g. Pediatr Radiol. 2014 Feb;44(2):222-5. doi: 10.1007/s00247-013-2782-2. Epub 2013 Sep 15. Pediatr Radiol. 2014. PMID: 24037084

9

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR; FORGE Canada Consortium; Bulman DE, Majewski J, Tarnopolsky M, Boycott KM. Sawyer SL, et al. Among authors: yoon g. Hum Mutat. 2014 Jan;35(1):45-9. doi: 10.1002/humu.22451. Hum Mutat. 2014. PMID: 24108619 Free PMC article.

10

Prospective study of activities of daily living outcomes in children with cerebellar atrophy.

Al-Maawali A, Blaser S, Zhao XY, Yoon G. Al-Maawali A, et al. Among authors: yoon g. Dev Med Child Neurol. 2014 May;56(5):460-7. doi: 10.1111/dmcn.12289. Epub 2013 Oct 1. Dev Med Child Neurol. 2014. PMID: 24116951 Free article.

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