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Professional regulation for Australasian genetic counselors.
J Genet Couns. 2021 Apr;30(2):361-369. doi: 10.1002/jgc4.1344. Epub 2020 Nov 5.
J Genet Couns. 2021.
PMID: 33151605
Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.
Riley KE, Salvemini H, Haan E, Fitzgerald L, Stallard K, Borrie S, Pontikinas E, Baxendale A.
Riley KE, et al. Among authors: salvemini h.
J Genet Couns. 2017 Feb;26(1):159-172. doi: 10.1007/s10897-016-9994-1. Epub 2016 Jul 21.
J Genet Couns. 2017.
PMID: 27443149
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Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.
Mordaunt DA, McIntyre LC, Salvemini H, Ibrahim A, Bratkovic D, Ketteridge D, Scott HS, Kassahn KS, Smith N.
Mordaunt DA, et al. Among authors: salvemini h.
Am J Med Genet A. 2015 Nov;167A(11):2697-701. doi: 10.1002/ajmg.a.37161. Epub 2015 Aug 20.
Am J Med Genet A. 2015.
PMID: 26289840
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Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.
Friederich MW, et al. Among authors: salvemini h.
Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.
Nat Commun. 2018.
PMID: 30283131
Free PMC article.
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