Quaghebeur G - Search Results

1

The upper airway and sleep apnoea in the Prader-Willi syndrome.

Richards A, Quaghebeur G, Clift S, Holland A, Dahlitz M, Parkes D. Richards A, et al. Among authors: quaghebeur g. Clin Otolaryngol Allied Sci. 1994 Jun;19(3):193-7. doi: 10.1111/j.1365-2273.1994.tb01213.x. Clin Otolaryngol Allied Sci. 1994. PMID: 7923838

2

Synovial cyst of the high cervical spine causing myelopathy.

Quaghebeur G, Jeffree M. Quaghebeur G, et al. AJNR Am J Neuroradiol. 1992 May-Jun;13(3):981-2. AJNR Am J Neuroradiol. 1992. PMID: 1590200 Free PMC article.

3

The incidence and relevance of bone sclerosis in orbital pseudotumour.

Quaghebeur G, Taylor J, Moseley I, Wright JE. Quaghebeur G, et al. Clin Radiol. 1996 Feb;51(2):123-6. doi: 10.1016/s0009-9260(96)80269-8. Clin Radiol. 1996. PMID: 8631165

4

Unusual cervical spine injury in a 1 year old.

Winter SC, Quaghebeur G, Richards PG. Winter SC, et al. Among authors: quaghebeur g. Injury. 2003 May;34(4):316-9. doi: 10.1016/s0020-1383(02)00206-1. Injury. 2003. PMID: 12667787 No abstract available.

5

Neuropsychological deficits in multiple sclerosis after acute relapse.

Foong J, Rozewicz L, Quaghebeur G, Thompson AJ, Miller DH, Ron MA. Foong J, et al. Among authors: quaghebeur g. J Neurol Neurosurg Psychiatry. 1998 Apr;64(4):529-32. doi: 10.1136/jnnp.64.4.529. J Neurol Neurosurg Psychiatry. 1998. PMID: 9576548 Free PMC article.

6

Manganese toxicity in children receiving long-term parenteral nutrition.

Fell JM, Reynolds AP, Meadows N, Khan K, Long SG, Quaghebeur G, Taylor WJ, Milla PJ. Fell JM, et al. Among authors: quaghebeur g. Lancet. 1996 May 4;347(9010):1218-21. doi: 10.1016/s0140-6736(96)90735-7. Lancet. 1996. PMID: 8622451

7

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, Quaghebeur G, Knight SJ, Keays DA, Taylor JC, Kini U. Lange L, et al. Among authors: quaghebeur g. Clin Genet. 2016 Sep;90(3):258-62. doi: 10.1111/cge.12773. Epub 2016 Apr 1. Clin Genet. 2016. PMID: 26954065 Free PMC article.

8

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.

Pagnamenta AT, Howard MF, Knight SJ, Keays DA, Quaghebeur G, Taylor JC, Kini U. Pagnamenta AT, et al. Among authors: quaghebeur g. Clin Case Rep. 2016 Aug 23;4(10):952-956. doi: 10.1002/ccr3.663. eCollection 2016 Oct. Clin Case Rep. 2016. PMID: 27761245 Free PMC article.

9

Calvarial masses of infants and children. A radiological approach.

Willatt JM, Quaghebeur G. Willatt JM, et al. Among authors: quaghebeur g. Clin Radiol. 2004 Jun;59(6):474-86. doi: 10.1016/j.crad.2003.12.006. Clin Radiol. 2004. PMID: 15145717 Review.

10

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.

Pagnamenta AT, Lise S, Harrison V, Stewart H, Jayawant S, Quaghebeur G, Deng AT, Murphy VE, Sadighi Akha E, Rimmer A, Mathieson I, Knight SJ, Kini U, Taylor JC, Keays DA. Pagnamenta AT, et al. Among authors: quaghebeur g. J Hum Genet. 2012 Jan;57(1):70-2. doi: 10.1038/jhg.2011.128. Epub 2011 Dec 1. J Hum Genet. 2012. PMID: 22129557

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