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Genetics
- Arteriovenous malformation of brain with stroke in Down syndrome: a case reportRajniti Prasad, Utpal Kant Singh, Om Prakash MishraCase Reports Jan 2009, 2009 bcr0720080414; DOI: 10.1136/bcr.07.2008.0414
- Two generations of identical twins with ELN deletionJasper Katumba-LunyenyaCase Reports Jan 2009, 2009 bcr0620080036; DOI: 10.1136/bcr.06.2008.0036
- Unusual case of hypocalcaemiaVinuta Mohan, Rishitha Yelisetti, Robert LindCase Reports Jun 2018, 2018 bcr-2018-225452; DOI: 10.1136/bcr-2018-225452
- Topical timolol for treatment of epistaxis in hereditary haemorrhagic telangiectasia associated with bradycardia: a look at CYP2D6 metabolising variantsNarendranath Epperla, Murray H Brilliant, Humberto VidailletCase Reports Feb 2014, 2014 bcr2013203056; DOI: 10.1136/bcr-2013-203056
- Gorlin syndromeJane E Hooper, Jonathan Schofield, Handrean Soran, Richard W WhitehouseCase Reports Oct 2013, 2013 bcr2013201045; DOI: 10.1136/bcr-2013-201045
- Ehlers-Danlos syndromeRajin Choudhury, Valeriu Revenco, Radu DarciucCase Reports Jan 2009, 2009 bcr0520091850; DOI: 10.1136/bcr.05.2009.1850
- Abdominal pain in a 5-year-old boyRebecca Thompson, Vijayalakshmi KothandaramanCase Reports Jun 2011, 2011 bcr1220103560; DOI: 10.1136/bcr.12.2010.3560
- Autism, language delay and mental retardation in a patient with 7q11 duplicationC Depienne, D Heron, C Betancur, B Benyahia, O Trouillard, D Bouteiller, A Verloes, E LeGuern, M Leboyer, A BriceCase Reports Jan 2009, 2009 bcr0520091911; DOI: 10.1136/bcr.05.2009.1911
- Neonatal liver failure due to deoxyguanosine kinase deficiencySusana Nobre, Manuela Grazina, Francisco Silva, Carla Pinto, Isabel Gonçalves, Luísa DiogoCase Reports Apr 2012, 2012 bcr1220115317; DOI: 10.1136/bcr.12.2011.5317
- Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescenceCheng-Hiang Lee, Roy A J Spence, Meena Upadhyaya, Patrick J MorrisonCase Reports Jan 2011, 2011 bcr1020103395; DOI: 10.1136/bcr.10.2010.3395
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