Martin Delatycki · Australian geneticist · YYNN

Martin Delatycki

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Australian geneticist

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Works
8

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

scientific article published on 26 October 2019

Insurance agreement to facilitate genetic testing

scientific article published in The Lancet

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

scientific article published on 01 August 2019

Disruption to higher order processes in Friedreich ataxia

scientific article published in January 2010

Genetics, Insurance and Professional Practice: Survey of the Australasian Clinical Genetics Workforce

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

scientific article published on May 2009

False Negative Carrier Screening in Spinal Muscular Atrophy

scientific article published on 20 December 2019

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype

scientific article published in April 2003

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