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Page 1
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Among authors: debelle gd. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Degos disease: a new simulator of non-accidental injury.
Moss C, Wassmer E, Debelle G, Hackett S, Goodyear H, Malcomson R, Ryder C, Sgouros S, Shahidullah H. Moss C, et al. Dev Med Child Neurol. 2009 Aug;51(8):647-50. doi: 10.1111/j.1469-8749.2009.03349.x. Epub 2009 Jun 22. Dev Med Child Neurol. 2009. PMID: 19549203 Free article.
Investigation of sudden unexpected deaths in infancy.
Moore A, Debelle G, Symonds L, Green A. Moore A, et al. Arch Dis Child. 2000 Sep;83(3):276. doi: 10.1136/adc.83.3.276c. Arch Dis Child. 2000. PMID: 10991754 Free PMC article. No abstract available.
Reviewing earlier diagnoses of chromosome.
Chung LC, Debelle G, Roberts E, McKeown C. Chung LC, et al. Arch Dis Child. 1995 Apr;72(4):375-6. doi: 10.1136/adc.72.4.375-c. Arch Dis Child. 1995. PMID: 7763079 Free PMC article. No abstract available.
Multiple cerebral abscesses in Papillon-Lefèvre syndrome.
Kanthimathinathan HK, Browne F, Ramirez R, McKaig S, Debelle G, Martin J, Chapple IL, Kay A, Moss C. Kanthimathinathan HK, et al. Childs Nerv Syst. 2013 Aug;29(8):1227-9. doi: 10.1007/s00381-013-2152-2. Epub 2013 May 18. Childs Nerv Syst. 2013. PMID: 23686359
Paediatric hypopharyngeal perforation: child abuse until proved otherwise?
Thevasagayam MS, Siemers MD, Debelle GD, Donaldsdon I, Kuo MK. Thevasagayam MS, et al. Among authors: debelle gd. Int J Pediatr Otorhinolaryngol. 2007 Apr;71(4):665-70. doi: 10.1016/j.ijporl.2006.12.013. Epub 2007 Feb 14. Int J Pediatr Otorhinolaryngol. 2007. PMID: 17303256
39 results