Further clinical and molecular delineation of the 15q24 microdeletion syndrome
HC Mefford, JA Rosenfeld, N Shur… - Journal of medical …, 2012 - jmg.bmj.com
Background Chromosome 15q24 microdeletion syndrome is a rare genomic disorder
characterised by intellectual disability, growth retardation, unusual facial morphology and …
characterised by intellectual disability, growth retardation, unusual facial morphology and …
Defining the region (s) of deletion at 6q16–q22 in human prostate cancer
ER Hyytinen, R Saadut, C Chen, L Paull… - Genes …, 2002 - Wiley Online Library
Deletion of the long arm of chromosome 6 (6q) frequently occurs in many neoplasms,
including carcinomas of the prostate and breast and melanoma, suggesting the location of a …
including carcinomas of the prostate and breast and melanoma, suggesting the location of a …
Female with Fabry disease unknowingly donates affected kidney to sister: a call for pre-transplant genetic testing
LS Paull, MJ Lipinski, WG Wilson… - JIMD Reports-Case and …, 2011 - Springer
Fabry disease, an X-linked lysosomal storage disorder, is caused by the deficiency of the
alpha-galactosidase A enzyme and the progressive accumulation of globotriaosylceramide …
alpha-galactosidase A enzyme and the progressive accumulation of globotriaosylceramide …
Taking advantage of a unique opportunity: A genetic counseling fellowship in lysosomal storage disorders
L Paull, S Lipinski - Journal of genetic counseling, 2012 - Springer
My life like many others has had moments of stability and moments of fluidity. It has been
influenced by experience and challenged by the unexpected. Although I believe that each …
influenced by experience and challenged by the unexpected. Although I believe that each …
[CITATION][C] Linguistic and Archaeological Sources for the Survival of the Romano-celts and Their Relationship with the Anglo-Saxons During and After the Settlement …
ML Paull - 1970 - Macquarie University