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601 results

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Page 1
Ethylmalonic encephalopathy masquerading as meningococcemia.
Horton A, Hong KM, Pandithan D, Allen M, Killick C, Goergen S, Springer A, Phelan D, Marty M, Halligan R, Lee J, Pitt J, Chong B, Christodoulou J, Lunke S, Stark Z, Fahey M. Horton A, et al. Among authors: christodoulou j. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006193. doi: 10.1101/mcs.a006193. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35165146 Free PMC article.
Atypical pyroglutamic aciduria: possible role of paracetamol.
Pitt JJ, Brown GK, Clift V, Christodoulou J. Pitt JJ, et al. Among authors: christodoulou j. J Inherit Metab Dis. 1990;13(5):755-6. doi: 10.1007/BF01799581. J Inherit Metab Dis. 1990. PMID: 2246862 No abstract available.
Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Schönewolf-Greulich B, Bisgaard AM, Møller RS, Dunø M, Brøndum-Nielsen K, Kaur S, Van Bergen NJ, Lunke S, Eggers S, Jespersgaard C, Christodoulou J, Tümer Z. Schönewolf-Greulich B, et al. Among authors: christodoulou j. Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25. Clin Genet. 2019. PMID: 29023665 Review.
Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.
Stark Z, Boughtwood T, Phillips P, Christodoulou J, Hansen DP, Braithwaite J, Newson AJ, Gaff CL, Sinclair AH, North KN. Stark Z, et al. Among authors: christodoulou j. Am J Hum Genet. 2019 Jul 3;105(1):7-14. doi: 10.1016/j.ajhg.2019.06.003. Am J Hum Genet. 2019. PMID: 31271757 Free PMC article.
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z. Akesson LS, et al. Among authors: christodoulou j. Eur J Hum Genet. 2019 Dec;27(12):1821-1826. doi: 10.1038/s41431-019-0477-3. Epub 2019 Jul 29. Eur J Hum Genet. 2019. PMID: 31358953 Free PMC article.
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Rius R, Van Bergen NJ, Compton AG, Riley LG, Kava MP, Balasubramaniam S, Amor DJ, Fanjul-Fernandez M, Cowley MJ, Fahey MC, Koenig MK, Enns GM, Sadedin S, Wilson MJ, Tan TY, Thorburn DR, Christodoulou J. Rius R, et al. Among authors: christodoulou j. J Clin Med. 2019 Nov 19;8(11):2020. doi: 10.3390/jcm8112020. J Clin Med. 2019. PMID: 31752325 Free PMC article.
Clinical genomic testing: what matters to key stakeholders?
Best S, Stark Z, Phillips P, Wu Y, Long JC, Taylor N, Braithwaite J, Christodoulou J, Goranitis I. Best S, et al. Among authors: christodoulou j. Eur J Hum Genet. 2020 Jul;28(7):866-873. doi: 10.1038/s41431-020-0576-1. Epub 2020 Feb 5. Eur J Hum Genet. 2020. PMID: 32024983 Free PMC article.
Parental health spillover effects of paediatric rare genetic conditions.
Wu Y, Al-Janabi H, Mallett A, Quinlan C, Scheffer IE, Howell KB, Christodoulou J, Leventer RJ, Lockhart PJ, Stark Z, Boughtwood T, Goranitis I. Wu Y, et al. Among authors: christodoulou j. Qual Life Res. 2020 Sep;29(9):2445-2454. doi: 10.1007/s11136-020-02497-3. Epub 2020 Apr 7. Qual Life Res. 2020. PMID: 32266555
601 results