Genetics

CLINICAL /
Genetics

Hemifacial microsomia with pulmonary hypoplasia
Inusha Panigrahi, Rashmi Ranjan Das, Ram Kumar Marwaha

Case Reports Jan 2010, 2010 bcr0420091759; DOI: 10.1136/bcr.04.2009.1759
Fragile XE: an important differential diagnosis
Venkataraman Krishnan, Penny Clouston, Mark Crocker, James MacPherson, Frances Heydon, Helen Stewart

Case Reports Jan 2010, 2010 bcr0620091964; DOI: 10.1136/bcr.06.2009.1964
Acute aortic dissection mimics acute inferoposterior wall myocardial infarction in a Marfan syndrome patient
Prasit Phowthongkum

Case Reports Jan 2010, 2010 bcr0820092155; DOI: 10.1136/bcr.08.2009.2155
Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia
Elisa Rossi, Laura Boeri, Patrizia Morbini, Fabio Pagella, Andrea Colombo, Elina Matti, Carla Olivieri, Vincenzo Villanacci, Antonella Minelli, Elisabetta Buscarini, Cecilia Canzonieri, Cesare Danesino

Case Reports Jan 2010, 2010 bcr0920092251; DOI: 10.1136/bcr.09.2009.2251
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
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
Meningomyelocele: the tip of the iceberg
Sweety Shinde, Shikha Singhal

Case Reports Jan 2009, 2009 bcr0420091811; DOI: 10.1136/bcr.04.2009.1811
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

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CLINICAL
- Anaesthesia (34)
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- Diagnostics
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- Emergency medicine
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- Endocrinology
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- Endocrinology (139)
- Evidence based practice
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- Gastroenterology
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- General practice / family medicine (41)
- Genetics
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- Genetics (54)
- Geriatric medicine
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- Haematology (incl blood transfusion) (121)
- HIV/AIDS (15)
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- Infectious diseases (229)
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- Intensive care (93)
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  - SIDS
- Paediatrics (147)
- Palliative care
  - End of life decisions (palliative care) (2)
  - Hospice
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- Palliative care (4)
- Pathology
  - Chemical pathology
  - Cytopathology
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- Pathology (109)
- Pharmacology and therapeutics
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- Pharmacology and therapeutics (107)
- Prison medicine
- Psychiatry
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- Psychiatry (48)
- Radiology (161)
- Rehabilitation medicine
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- Rehabilitation medicine (12)
- Renal medicine
  - Acute renal failure (30)
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  - Nephrotic syndrome (5)
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- Renal medicine (83)
- Respiratory medicine (115)
- Rheumatology
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- Surgery
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- Surgery (495)
- Urology (55)
NON-CLINICAL
- Communication
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- Ethics
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  - Bioethics
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- Ethnic studies
- Health economics (2)
- Health informatics
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- Health policy
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- Medical careers
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  - Getting and changing jobs
  - Getting and changing jobs (including job descriptions and contracts)
  - Leaving medicine
  - Medical careers
  - Organise and prepare your CV
  - Organise working abroad
  - Pay, working conditions, and health
  - Personal development
  - Portfolio development
  - Prepare for appraisal
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  - Professional conduct and regulation
  - Professional regulation and standards
  - Retirement
- Medical education
  - History taking and the physical examination
  - Postgraduate
  - Undergraduate
- Medical education (17)
- Medical management
  - Doctors' morale and well being
  - Medical error/ patient safety
  - Quality improvement
- Medical management (33)
- Occupational and environmental medicine (37)
- Patients
- Public health
  - Abuse (child, partner, elder)
  - Air pollution
  - Alcohol
  - Drug misuse
  - Environmental issues
  - Health education
  - 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
  - Vaccination programs
  - Violence (other)
  - Violence against women
- Public health (18)
- Smoking and tobacco (2)
- Sociology
- Statistics and research methods
  - Comparative effectiveness research
  - Qualitative research
  - Quantitative research
- Statistics and research methods (1)
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Genetics

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