Yoon G - Search Results

1

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.

Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Nimmo GAM, et al. Among authors: yoon g. Hum Mol Genet. 2019 Jan 15;28(2):290-306. doi: 10.1093/hmg/ddy351. Hum Mol Genet. 2019. PMID: 30304514 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

A population-based study of dystrophin mutations in Canada.

Mah JK, Selby K, Campbell C, Nadeau A, Tarnopolsky M, McCormick A, Dooley JM, Kolski H, Skalsky AJ, Smith RG, Buckley D, Ray PN, Yoon G. Mah JK, et al. Among authors: yoon g. Can J Neurol Sci. 2011 May;38(3):465-74. doi: 10.1017/s0317167100011896. Can J Neurol Sci. 2011. PMID: 21515508

7

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

Al-Zaidy SA, Baskin B, Hawkins C, Yoon G, Ray PN, Vajsar J. Al-Zaidy SA, et al. Among authors: yoon g. Muscle Nerve. 2012 May;45(5):752-5. doi: 10.1002/mus.23274. Muscle Nerve. 2012. PMID: 22499106

8

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.

9

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

Yoon G, Baskin B, Tarnopolsky M, Boycott KM, Geraghty MT, Sell E, Goobie S, Meschino W, Banwell B, Ray PN. Yoon G, et al. Neurogenetics. 2013 Nov;14(3-4):181-8. doi: 10.1007/s10048-013-0366-9. Epub 2013 Jun 4. Neurogenetics. 2013. PMID: 23733235

10

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

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