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Genes|September 28, 2021
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau DiseaseHugh Furness, Louay Salfity, Johanna Devereux, et al.
Medical Oncology (Northwood, London, England)|February 23, 2024
Venetoclax with decitabine or azacitidine in relapsed or refractory acute myeloid leukemiaIan M Bouligny, Graeme Murray, Michael Doyel, et al.
Journal of Medical Genetics|September 9, 2000
Recurrent germline mutation in MSH2 arises frequently de novoD C Desai, J C Lockman, R B Chadwick, et al.
Molecular Genetics and Metabolism|October 1, 2011
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like diseaseE Meyer, M A Kurian, N V Morgan, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|October 23, 2019
Fumarate Metabolic Signature for the Detection of Reed Syndrome in HumansRuth T Casey, Mary A McLean, Benjamin G Challis, et al.
European Journal of Human Genetics : EJHG|July 7, 2005
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndromeWendy N Cooper, Anita Luharia, Gail A Evans, et al.
The Journal of Clinical Endocrinology and Metabolism|July 9, 2014
Germline FH mutations presenting with pheochromocytomaGraeme R Clark, Marco Sciacovelli, Edoardo Gaude, et al.
American Journal of Human Genetics|March 15, 2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndromeIrene A Aligianis, Neil V Morgan, Marina Mione, et al.
International Journal of Endocrinology|April 18, 2015
Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysisAndrea Luchetti, Diana Walsh, Fay Rodger, et al.
Insights Into Imaging|August 7, 2025
Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasmAmreen Shakur, Grant D Stewart, Timothy J Sadler, et al.
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