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- Coronary artery dissection in adult-onset homocystinuriaBrigitte Granel, Pascal Rossi, Laurent Bonello, Dominique Brunet, Fanny Bernard, Yves FrancesCase Reports Jan 2009, 2009 bcr0620091990; DOI: 10.1136/bcr.06.2009.1990
- Meningomyelocele: the tip of the icebergSweety Shinde, Shikha SinghalCase Reports Jan 2009, 2009 bcr0420091811; DOI: 10.1136/bcr.04.2009.1811
- A novel germline mutation of the VHL gene in a Greek family with Von Hippel–Lindau diseaseMelpomeni Peppa, Smaragda Kamakari, Eleni Boutati, Panagiotis Nikolopoulos, Christoforos Giatzakis, Theofanis Economopoulos, Dimitrios Hadjidakis, Sotirios A RaptisCase Reports Jan 2009, 2009 bcr0220091574; DOI: 10.1136/bcr.02.2009.1574
- Undiagnosed coarctation of the aorta as a cause of aortic dissection in the youngSarah Saunders, Dean Harmse, Mary SheppardCase Reports Jan 2009, 2009 bcr0420091740; DOI: 10.1136/bcr.04.2009.1740
- Atypical early onset of diabetes, deafness and lung cancer in a male patient with mitochondrial mutations in peripheral mononuclear cellsSatoru Suzuki, Masahiro Takei, Takashi Ehara, Shin-ichi Nishio, Hidefumi Inaba, Kiyoshi HashizumeCase Reports Jan 2009, 2009 bcr0320091648; DOI: 10.1136/bcr.03.2009.1648
- Possible fenugreek induced haemolysis in a patient with previously unknown G6PD deficiencyJoseph Marshall Sadler, Stephen Ash, Finella Marie Brito-BabapulleCase Reports Jan 2009, 2009 bcr0920080895; DOI: 10.1136/bcr.09.2008.0895
- Creutzfeldt–Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNPX F Wang, Y J Guo, B Y Zhang, W Q Zhao, J M Gao, Y Z Wan, F Li, J Han, D X Wang, X P DongCase Reports Jan 2009, 2009 bcr0620092002; DOI: 10.1136/bcr.06.2009.2002
- Ehlers-Danlos syndromeRajin Choudhury, Valeriu Revenco, Radu DarciucCase Reports Jan 2009, 2009 bcr0520091850; DOI: 10.1136/bcr.05.2009.1850
- Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrumC Orellana, J Bernabeu, S Monfort, M Roselló, S Oltra, I Ferrer, R Quiroga, I Martínez-Garay, F MartínezCase Reports Jan 2009, 2009 bcr0620091996; DOI: 10.1136/bcr.06.2009.1996
- ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousalE J Marco, F E Abidi, J Bristow, W B Dean, P Cotter, R J Jeremy, C E Schwartz, E H SherrCase Reports Jan 2009, 2009 bcr0620091999; DOI: 10.1136/bcr.06.2009.1999
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