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2016 | 1 |
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Page 1
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29.
Genet Med. 2023.
PMID: 36305855
Free article.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S.
Vogel GF, et al. Among authors: howard c.
Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13.
Genet Med. 2023.
PMID: 37272928
Free article.
No abstract available.
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Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre.
Dunne E, O'Reilly D, Murphy CA, Howard C, Kelleher G, Suttie T, Boyle MA, Brady JJ, Knerr I, Khuffash AE.
Dunne E, et al. Among authors: howard c.
Eur J Pediatr. 2022 Oct;181(10):3725-3732. doi: 10.1007/s00431-022-04588-4. Epub 2022 Aug 10.
Eur J Pediatr. 2022.
PMID: 35945291
Free PMC article.
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Percutaneous endoscopic gastrostomy for refractory epilepsy and medication refusal.
Howard C, Macken WL, Connolly A, Keegan M, Coghlan D, Webb DW.
Howard C, et al.
Arch Dis Child. 2019 Jul;104(7):690-692. doi: 10.1136/archdischild-2018-315629. Epub 2019 Mar 4.
Arch Dis Child. 2019.
PMID: 30833283
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No effect of a musical intervention on stress response to venepuncture in a neonatal population.
Howard C, Powell AS, Pavlidis E, Pavel A, Finn D, Allen A, Olavarria-Ramirez L, Clarke G, Livingstone V, Boylan GB, Dempsey EM.
Howard C, et al.
Acta Paediatr. 2020 Mar;109(3):511-517. doi: 10.1111/apa.15018. Epub 2019 Oct 18.
Acta Paediatr. 2020.
PMID: 31532835
Clinical Trial.
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Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease.
Howard C, Dev-Borman A, Stokes J, O'Rourke D, Gillespie C, Twomey E, Knerr I, Boruah R.
Howard C, et al.
JIMD Rep. 2022 Dec 8;64(2):150-155. doi: 10.1002/jmd2.12355. eCollection 2023 Mar.
JIMD Rep. 2022.
PMID: 36873085
Free PMC article.
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A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW.
Alston CL, et al. Among authors: howard c.
J Med Genet. 2016 Sep;53(9):634-41. doi: 10.1136/jmedgenet-2015-103576. Epub 2016 Apr 18.
J Med Genet. 2016.
PMID: 27091925
Free PMC article.
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