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American Journal of Ophthalmology|May 23, 2020
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 VariantPeter Charbel Issa, Carolyn Tysoe, Richard Caswell
Prenatal Diagnosis|April 9, 2008
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctataCarolyn Tysoe, Caroline J Law, Richard Caswell, et al.
European Journal of Dermatology : EJD|October 9, 2002
Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findingsAhmet Akar, Davut G l, Zeyir Erdem, et al.
Genetic Testing and Molecular Biomarkers|May 2, 2009
Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic settingSian Ellard, Beverley Shields, Carolyn Tysoe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2013
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopiesClaudia Matos-Miranda, Graeme Nimmo, Bradley Williams, et al.
European Journal of Pediatrics|January 5, 2008
A family with a novel TSH receptor activating germline mutation (p.Ala485Val)Sema Akcurin, Doga Turkkahraman, Carolyn Tysoe, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP geneVerity L Hartill, Carolyn Tysoe, Nigel Manning, et al.
Human Genomics|September 18, 2010
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) geneDavid S Millar, Carolyn Tysoe, Lazarus P Lazarou, et al.
Clinical Endocrinology|October 30, 2018
Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphyKashyap A Patel, Bridget Knight, Aftab Aziz, et al.
Neuropsychologia|September 24, 2004
A neuropsychological investigation of male premutation carriers of fragile X syndromeCaroline J Moore, Eileen M Daly, Nicole Schmitz, et al.
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