Genetics

CLINICAL /
Genetics

Coronary artery dissection in adult-onset homocystinuria
Brigitte Granel, Pascal Rossi, Laurent Bonello, Dominique Brunet, Fanny Bernard, Yves Frances

Case Reports Jan 2009, 2009 bcr0620091990; DOI: 10.1136/bcr.06.2009.1990
Meningomyelocele: the tip of the iceberg
Sweety Shinde, Shikha Singhal

Case 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 disease
Melpomeni Peppa, Smaragda Kamakari, Eleni Boutati, Panagiotis Nikolopoulos, Christoforos Giatzakis, Theofanis Economopoulos, Dimitrios Hadjidakis, Sotirios A Raptis

Case 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 young
Sarah Saunders, Dean Harmse, Mary Sheppard

Case 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 cells
Satoru Suzuki, Masahiro Takei, Takashi Ehara, Shin-ichi Nishio, Hidefumi Inaba, Kiyoshi Hashizume

Case Reports Jan 2009, 2009 bcr0320091648; DOI: 10.1136/bcr.03.2009.1648
Possible fenugreek induced haemolysis in a patient with previously unknown G6PD deficiency
Joseph Marshall Sadler, Stephen Ash, Finella Marie Brito-Babapulle

Case 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 PRNP
X 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 Dong

Case Reports Jan 2009, 2009 bcr0620092002; DOI: 10.1136/bcr.06.2009.2002
Ehlers-Danlos syndrome
Rajin Choudhury, Valeriu Revenco, Radu Darciuc

Case 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 spectrum
C Orellana, J Bernabeu, S Monfort, M Roselló, S Oltra, I Ferrer, R Quiroga, I Martínez-Garay, F Martínez

Case 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 hyperarousal
E J Marco, F E Abidi, J Bristow, W B Dean, P Cotter, R J Jeremy, C E Schwartz, E H Sherr

Case Reports Jan 2009, 2009 bcr0620091999; DOI: 10.1136/bcr.06.2009.1999

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CLINICAL
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NON-CLINICAL
- Communication
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  - Personal development
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- Medical education (15)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
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- Patients
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  - Abuse (child, partner, elder)
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  - Health of indigenous peoples
  - Health promotion
  - Homicide
  - Housing and health
  - Human rights
  - Injury
  - Obesity (public health)
  - Screening (public health)
  - Sexual health (public health)
  - Smoking
  - Social conditions and disease
  - Suicide (public health)
  - Urban health
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  - Violence (other)
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- Public health (16)
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- Sociology
- Statistics and research methods
  - Comparative effectiveness research
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- Statistics and research methods (1)
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