Yoon G - Search Results

1

Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder.

Gauquelin L, Hawkins C, Tam EWY, Miller SP, Yoon G. Gauquelin L, et al. Among authors: yoon g. Neurology. 2020 Apr 7;94(14):631-634. doi: 10.1212/WNL.0000000000009223. Epub 2020 Mar 13. Neurology. 2020. PMID: 32170034 No abstract available.

2

Stepwise developmental regression associated with novel CACNA1A mutation.

Guerin AA, Feigenbaum A, Donner EJ, Yoon G. Guerin AA, et al. Among authors: yoon g. Pediatr Neurol. 2008 Nov;39(5):363-4. doi: 10.1016/j.pediatrneurol.2008.07.030. Pediatr Neurol. 2008. PMID: 18940563

3

Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.

Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Hung RM, et al. Among authors: yoon g. Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd.2010.01.011. Epub 2010 Mar 19. Neuromuscul Disord. 2010. PMID: 20303757

4

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

5

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.

6

Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7.

Trang H, Stanley SY, Thorner P, Faghfoury H, Schulze A, Hawkins C, Pearson CE, Yoon G. Trang H, et al. Among authors: yoon g. JAMA Neurol. 2015 Feb;72(2):219-23. doi: 10.1001/jamaneurol.2014.1902. JAMA Neurol. 2015. PMID: 25506882

7

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L.

Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW, Lee KS, Hawkins C, Cohn RD; Finding of Rare Disease Genes (FORGE) in Canada Consortium Steering Committee. Yoon G, et al. J Pediatr. 2016 Apr;171:313-6.e1-2. doi: 10.1016/j.jpeds.2015.12.060. Epub 2016 Jan 26. J Pediatr. 2016. PMID: 26825290

8

Neonatal stroke and haematuria: Questions.

Kellett S, Lemaire M, Miller SP, Licht C, Yoon G, Dlamini N, Noone D. Kellett S, et al. Among authors: yoon g. Pediatr Nephrol. 2018 May;33(5):805-806. doi: 10.1007/s00467-017-3745-x. Epub 2017 Jul 17. Pediatr Nephrol. 2018. PMID: 28717936

9

Neonatal stroke and haematuria: Answers.

Kellett S, Lemaire M, Miller SP, Licht C, Yoon G, Dlamini N, Noone D. Kellett S, et al. Among authors: yoon g. Pediatr Nephrol. 2018 May;33(5):807-811. doi: 10.1007/s00467-017-3747-8. Epub 2017 Jul 17. Pediatr Nephrol. 2018. PMID: 28717939

10

Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.

Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A. Abdullah S, et al. Among authors: yoon g. Am J Med Genet A. 2017 Nov;173(11):3082-3086. doi: 10.1002/ajmg.a.38394. Epub 2017 Oct 5. Am J Med Genet A. 2017. PMID: 28980384

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