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1980 1
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2002 2
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76 results

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Page 1
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Morimoto M, Nicoli ER, Kuptanon C, Roney JC, Serra-Vinardell J, Sharma P, Adams DR, Gallin JI, Holland SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, Introne WJ, Malicdan MCV. Morimoto M, et al. Among authors: ciccone c. J Med Genet. 2024 Feb 21;61(3):212-223. doi: 10.1136/jmg-2023-109420. J Med Genet. 2024. PMID: 37788905 Free PMC article. Review.
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M. Celeste FV, et al. Among authors: ciccone c. Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Hum Mutat. 2014. PMID: 24796702 Free PMC article. Review.
Circadian coupling of mitochondria in a deep-diving mammal.
Ciccone C, Kante F, Folkow LP, Hazlerigg DG, West AC, Wood SH. Ciccone C, et al. J Exp Biol. 2024 Apr 1;227(7):jeb246990. doi: 10.1242/jeb.246990. Epub 2024 Apr 8. J Exp Biol. 2024. PMID: 38495024 Free PMC article.
A safer approach for the axillary vein cannulation: a proposal.
Nazzarro E, Ceccaroni G, Mariani R, Ciccone C, Marinangeli F. Nazzarro E, et al. Among authors: ciccone c. Minerva Anestesiol. 2023 Oct;89(10):949-950. doi: 10.23736/S0375-9393.23.17398-6. Epub 2023 Aug 3. Minerva Anestesiol. 2023. PMID: 37534884 Free article. No abstract available.
Assessment of Thyroid Function in Patients With Alkaptonuria.
Avadhanula S, Introne WJ, Auh S, Soldin SJ, Stolze B, Regier D, Ciccone C, Hannah-Shmouni F, Filie AC, Burman KD, Klubo-Gwiezdzinska J. Avadhanula S, et al. Among authors: ciccone c. JAMA Netw Open. 2020 Mar 2;3(3):e201357. doi: 10.1001/jamanetworkopen.2020.1357. JAMA Netw Open. 2020. PMID: 32202644 Free PMC article.
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Kuptanon C, Morimoto M, Nicoli ER, Stephen J, Yarnell DS, Dorward H, Owen W, Parikh S, Ozbek NY, Malbora B, Ciccone C, Gunay-Aygun M, Gahl WA, Introne WJ, Malicdan MCV. Kuptanon C, et al. Among authors: ciccone c. Front Genet. 2023 Mar 8;14:1072784. doi: 10.3389/fgene.2023.1072784. eCollection 2023. Front Genet. 2023. PMID: 36968585 Free PMC article.
76 results