Showing results (1-10 of 7) with videos related to
Sort By:
Pageof 1
Journal of Medical Genetics|July 16, 2016
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephalyReuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, et al.The Journal of Pathology. Clinical Research|February 6, 2020
Multifocal breast cancers are more prevalent in BRCA2 versus BRCA1 mutation carriersAlan D McCrorie, Susannah Ashfield, Aislinn Begley, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.Journal of Medical Genetics|April 10, 2019
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA reportAmanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, et al.The Lancet. Oncology|January 17, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort studyEllen R Copson, Tom C Maishman, Will J Tapper, et al.American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.American Journal of Medical Genetics. Part A|February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patientsJanneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.Pageof 1