neurosurgery

Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene
Steven Smeijers, Hilde Brems, Alexander Verhaeghe, Wim van Paesschen, Johannes van Loon, Seppe Van der Auweraer, Raf Sciot, Dietmar Rudolf Thal, Lieven Lagae, Eric Legius, Tom Theys

Journal of Medical Genetics Sep 2024, 61 (9) 904-907; DOI: 10.1136/jmg-2023-109785
Sporadic vestibular schwannoma: a molecular testing summary
Katherine V Sadler, Naomi L Bowers, Claire Hartley, Philip T Smith, Simon Tobi, Andrew J Wallace, Andrew King, Simon K W Lloyd, Scott Rutherford, Omar N Pathmanaban, Charlotte Hammerbeck-Ward, Simon Freeman, Emma Stapleton, Amy Taylor, Adam Shaw, Dorothy Halliday, Miriam Jane Smith, D Gareth Evans

Journal of Medical Genetics Apr 2021, 58 (4) 227-233; DOI: 10.1136/jmedgenet-2020-107022

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neurosurgery