Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rebecca Treacy"'
Autor:
Zandra C. Deans, Joo Wook Ahn, Isabel M. Carreira, Elisabeth Dequeker, Mick Henderson, Luca Lovrecic, Katrin Õunap, Melody Tabiner, Rebecca Treacy, Christi J. van Asperen
Publikováno v:
European Journal of Human Genetics, 30(9), 1011-1016. SPRINGERNATURE
Results of clinical genomic testing must be reported in a clear, concise format to ensure they are understandable and interpretable. It is important laboratories are aware of the information which is essential to make sure the results are not open to
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 81:350-352
Tuberous sclerosis (TS) is an autosomal dominant disorder with variable expression, which causes epilepsy, mental retardation and hamartomas in many organ systems. TS is caused by mutations in two genes, TSC1 on 9q34 and TSC2 on 16p13.3. Mutations ca
Autor:
Mariangela, Iovino, Ulrich, Pfisterer, Janice L, Holton, Tammaryn, Lashley, Robert J, Swingler, Laura, Calo, Rebecca, Treacy, Tamas, Revesz, Malin, Parmar, Michel, Goedert, Miratul M K, Muqit, Maria Grazia, Spillantini
Publikováno v:
Acta Neuropathologica
Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction. About 20–30 % of cases are inherited in a dominant manner. M
Autor:
Andrew J Wallace, Beverley M. Shields, Rebecca Treacy, C. Mattocks, Sian Ellard, Shu Yau, Carolyn Tysoe
Publikováno v:
Genetic testing and molecular biomarkers. 13(3)
The past 10 years have seen an improvement in sequence data quality due to the introduction of capillary sequencers and new sequencing chemistries. In parallel, new software programs for automated mutation detection have been developed. We evaluated
Autor:
Rebecca Treacy, C Stroud, Dawn Barge, Sophie Hambleton, Michael David O'Sullivan, Terry Flood, Andrew R. Gennery, Steven O'Reilly, Marzena Ciechomska, Stephen Owens, Rainer Doffinger, Mario Abinun
Publikováno v:
Journal of Allergy and Clinical Immunology. 131:AB69