Department of Dermatology ST VINCENTS HOSPITAL MELBOURNE FITZROY AUSTRALIA BIENNIAL REPORT 2001-2002 1 It is remarkable how time seems to go more rapidly the older we get.…

FRACP teaching Ian Hayes Clinical Geneticist NRGS. Topics Interpretation of pedigrees Autosomal dominant (including trinucleotide repeats), recessive, X linked, mitochondrial,…

Non-Traditional Types of Gene Disorders (NTGD) Mohammed El-Khateeb GL- 8 July 16th 2013 Classification of genetic disorders Chromosomal Single gene Autosomal recessive Autosomal…

Topics Interpretation of pedigrees Autosomal dominant (including trinucleotide repeats), recessive, X linked, mitochondrial, imprinting (risk assessment questions). Knowledge…

Turner’s syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesisRESEARCH Turner’s syndrome mosaicism in girls with neurodevelopmental

Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas C L Wu, N Thakker,W Neary, G Black, R Lye, R T Ramsden,

Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma D G R Evans, R Lye, W Neary, G Black, T Strachan, A Wallace, R T Ramsden Abstract

Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesisRESEARCH Klinefelter syndrome mosaicism in boys