Wilson C - Search Results

1

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Tallgren A, Kager L, O'Grady G, Tuominen H, Körkkö J, Kuismin O, Feucht M, Wilson C, Behunova J, England E, Kurki MI, Palotie A, Hallman M, Kaarteenaho R, Laccone F, Boztug K, Hinttala R, Uusimaa J. Tallgren A, et al. Among authors: wilson c. Front Neurosci. 2023 Apr 27;17:1123327. doi: 10.3389/fnins.2023.1123327. eCollection 2023. Front Neurosci. 2023. PMID: 37179546 Free PMC article.

2

Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans.

Young AT, Ly KN, Wilson C, Lehnert K, Snell RG, Reid SJ, Jacobsen JC. Young AT, et al. Among authors: wilson c. Dis Model Mech. 2018 Nov 9;11(11):dmm035709. doi: 10.1242/dmm.035709. Dis Model Mech. 2018. PMID: 30266839 Free PMC article.

3

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K. Jacobsen JC, et al. Among authors: wilson c. Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26. Case Rep Genet. 2015. PMID: 26587300 Free PMC article.

4

Metabolic disease in the Pacific: Lessons for indigenous populations.

Wilson C. Wilson C. J Inherit Metab Dis. 2022 Sep;45(5):919-925. doi: 10.1002/jimd.12495. Epub 2022 Mar 17. J Inherit Metab Dis. 2022. PMID: 35267200

5

Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies.

Wilson C, Aftimos S, Pereira A, McKay R. Wilson C, et al. Am J Med Genet. 1998 Jul 7;78(3):286-90. doi: 10.1002/(sici)1096-8628(19980707)78:3<286::aid-ajmg16>3.0.co;2-b. Am J Med Genet. 1998. PMID: 9677068 Review.

6

Exertional rhabdomyolysis following return to exercise after COVID-19 lockdown.

Bernhardt I, Ryder B, Wilson C. Bernhardt I, et al. Among authors: wilson c. N Z Med J. 2022 Feb 4;135(1549):117-119. N Z Med J. 2022. PMID: 35728147 No abstract available.

7

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.

Bernhardt I, Glamuzina E, Ryder B, Knoll D, Heather N, De Hora M, Webster D, Wilson C. Bernhardt I, et al. Among authors: wilson c. JIMD Rep. 2022 Sep 21;64(2):180-186. doi: 10.1002/jmd2.12339. eCollection 2023 Mar. JIMD Rep. 2022. PMID: 36873086 Free PMC article.

8

Citrullinaemia type I: a common mutation in the Pacific Island population.

Glamuzina E, Marquis-Nicholson R, Knoll D, Love DR, Wilson C. Glamuzina E, et al. Among authors: wilson c. J Paediatr Child Health. 2011 May;47(5):262-5. doi: 10.1111/j.1440-1754.2010.01948.x. Epub 2011 Jan 18. J Paediatr Child Health. 2011. PMID: 21244552

9

The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.

Wilson C, Knoll D, de Hora M, Kyle C, Glamuzina E, Webster D. Wilson C, et al. JIMD Rep. 2017;35:53-58. doi: 10.1007/8904_2016_25. Epub 2016 Dec 8. JIMD Rep. 2017. PMID: 27928776 Free PMC article.

10

Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.

Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA. Antonarakis SE, et al. Among authors: wilson c. Hum Mol Genet. 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026. Hum Mol Genet. 2021. PMID: 33693784

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