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BMC Pediatrics|May 5, 2012
Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)Steven J Keogh, Shane McKee, Sarah F Smithson, et al.
BMC Medical Genetics|April 2, 2020
Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case reportAnna E Mason, David Grier, Sarah F Smithson, et al.
European Journal of Cancer (Oxford, England : 1990)|July 9, 2013
The use of stimulant medication to improve neurocognitive and learning outcomes in children diagnosed with brain tumours: a systematic reviewEmilie F Smithson, Robert Phillips, David W Harvey, et al.
European Journal of Human Genetics : EJHG|May 4, 2026
Long-term survival without high cancer risk in a cohort of 24 patients with Apert syndromeBenjamin J Cairns, Dominique M Davidson, Sarah F Smithson, et al.
Bone Reports|December 28, 2020
Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for <i>TNFRSF11A</i> osteoclast-poor autosomal recessive osteopetrosisTashunka Taylor-Miller, Ponni Sivaprakasam, Sarah F Smithson, et al.
Clinical Dysmorphology|May 29, 2000
The KBG syndromeS F Smithson, E M Thompson, A G McKinnon, et al.
Clinical Dysmorphology|January 7, 2003
Siblings with Bohring-Opitz syndromeK L Greenhalgh, R A Newbury-Ecob, P W Lunt, et al.
Sarcoma|June 4, 2008
An association of multiple well differentiated liposarcomas, lipomatous tissue and hereditary retinoblastomaJ K O'Neill, C A Stone, P Sarsfield, et al.
American Journal of Medical Genetics. Part A|August 26, 2018
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeletonChristine P Burren, Richard Caswell, Bruce Castle, et al.
Clinical Genetics|February 2, 2025
A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial DysplasiaAlistair T Pagnamenta, Mona Hashim, Joanna Kennedy, et al.
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