Search Results - "Langley, Claire"
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1
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum
Published in Clinical genetics (01-02-2019)Get full text
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Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
Published in Endocrinology, diabetes & metabolism case reports (23-08-2018)“…Summary Wiedemann–Steiner Syndrome (WSS) is a rare condition characterised by short stature, hypertrichosis of the elbow, intellectual disability and…”
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3
Multicenter Evaluation of the Xpert Norovirus Assay for Detection of Norovirus Genogroups I and II in Fecal Specimens
Published in Journal of clinical microbiology (01-01-2016)“…Norovirus is the most common cause of sporadic gastroenteritis and outbreaks worldwide. The rapid identification of norovirus has important implications for…”
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4
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
Published in Journal of allergy and clinical immunology (01-04-2019)“…Caspase activation and recruitment domain 11 (CARD11) encodes a scaffold protein in lymphocytes that links antigen receptor engagement with downstream…”
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5
The management of acute complete ruptures of the ulnar collateral ligament of the thumb
Published in Bone & joint open (22-08-2024)“…Complete ruptures of the ulnar collateral ligament (UCL) of the thumb are a common injury, yet little is known about their current management in the UK. The…”
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Hypomorphic CARD11 mutations associated with diverse immunologic phenotypes with or without atopic disease
Published in Journal of allergy and clinical immunology (28-08-2018)“…This description of a large cohort of patients broadens the spectrum of clinical disease phenotypes linked to CARD11 DN mutations, including atopy, cutaneous…”
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Investigating maintenance and discard patterns for middle to late magdalenian antler projectile points: inter-site and inter-regional comparisons
Published 01-01-2014“…Projectile points manufactured from antler, bone, ivory, and horn were a significant component of the Pleistocene hunter-gatherer’s weapons toolkit. While this…”
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Dissertation -
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Challenges to Sustainable Growth after the Great Recession: How America Can Lead
Published in The New Politics of Strategic Resources (21-11-2014)“…In January 2000 President Bill Clinton argued that the United States had entered the new century from a position of unparalleled strength. “Never before has…”
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Book Chapter -
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REACTIVE OR PROACTIVE CONTACT LENS FITTING - DOES IT MAKE A DIFFERENCE?: Poster # 76 (CL-351)
Published in Optometry and vision science (01-12-1995)Get full text
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Reactive or proactive contact lens fitting — does it make a difference?
Published in Journal of the British Contact Lens Association (1996)“…Four practitioners each noted the details of 40 successive non-contact lens-wearing patients who consulted them for a routine eye examination. The subjects…”
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Journal Article