Showing results (61-70 of 81) with videos related to

Sort By:
Pageof 9
Journal of Medical Genetics|August 16, 2015
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patientsAdam Hexter, Adrian Jones, Harry Joe, et al.
The Laryngoscope|October 17, 2018
Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 geneD Gareth Evans, Andrew J Wallace, Claire Hartley, et al.
The Journal of Pathology|August 22, 2014
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomasMiriam J Smith, Andrew J Wallace, Chris Bennett, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteriaScott R Plotkin, Jaishri O Blakeley, D Gareth Evans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2023
Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descentEleanor Roberts, Elke M van Veen, Helen Byers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancerEmma R Woodward, Elke M van Veen, Claire Forde, et al.
Nature Communications|May 29, 2020
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individualsNicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, et al.
Nature Communications|March 27, 2025
Spatial mapping of immune cell environments in NF2-related schwannomatosis vestibular schwannomaAdam P Jones, Michael J Haley, Miriam H Meadows, et al.
Neurology|December 7, 2014
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisMiriam J Smith, Bertand Isidor, Christian Beetz, et al.
Neuro-Oncology|December 18, 2020
Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institutionClaire Forde, Andrew T King, Scott A Rutherford, et al.
Pageof 9