Genetics

CLINICAL /
Genetics

Pregnancy outcome in a woman with prune belly syndrome
R Tyler Hillman, Matthew James Garabedian, Robert J Wallerstein

Case Reports Nov 2012, 2012 bcr-2012-006490; DOI: 10.1136/bcr-2012-006490
R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease
Aradhana Aneja, Aditi Sharma, Ashwin Dalal, Vishal Sondhi

Case Reports Nov 2012, 2012 bcr2012006959; DOI: 10.1136/bcr-2012-006959
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis
Alberto Berenguer, António Pedro Freitas, Gomes Ferreira, José Luis Nunes

Case Reports Nov 2012, 2012 bcr2012006930; DOI: 10.1136/bcr-2012-006930
Neonatal stroke associated with de novo antiphospholipid antibody and homozygous 1298C/C methylenetetrahydrofolate reductase mutation
Paulo Rego Sousa, Ricardo Figueira, Rui Vasconcellos

Case Reports Nov 2012, 2012 bcr2012006451; DOI: 10.1136/bcr-2012-006451
A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl
Nadia Nathan, Emmanuelle Girodon, Annick Clement, Harriet Corvol

Case Reports Nov 2012, 2012 bcr2012006918; DOI: 10.1136/bcr-2012-006918
Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-)
Louisa Hinterberger, Claudia Pföhler, Thomas Vogt, Cornelia S L Müller

Case Reports Nov 2012, 2012 bcr2012006443; DOI: 10.1136/bcr-2012-006443
Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence
Gillian A Horne, Timothy Chevassut

Case Reports Nov 2012, 2012 bcr2012007305; DOI: 10.1136/bcr-2012-007305
Novel mutation of SRD5A2 gene in a patient with 5α-reductase 2 deficiency from India
Iram Shabir, Eunice Marumudi, Madan L Khurana, Rajesh Khadgawat

Case Reports Oct 2012, 2012 bcr2012007060; DOI: 10.1136/bcr-2012-007060
A medical student with symphalangism, would it affect her future career?
Ahmed M Saliem, Amal Rashad Nimir, Farkaad A Abdul Kadir

Case Reports Oct 2012, 2012 bcr2012006668; DOI: 10.1136/bcr-2012-006668
Caffey disease in neonatal period: the importance of the family!
Ana Rita Prior, Oana Moldovan, António Azevedo, Carlos Moniz

Case Reports Oct 2012, 2012 bcr2012006996; DOI: 10.1136/bcr-2012-006996

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CLINICAL
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- Communication
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  - Health of indigenous peoples
  - Health promotion
  - Homicide
  - Housing and health
  - Human rights
  - Injury
  - Obesity (public health)
  - Screening (public health)
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  - Smoking
  - Social conditions and disease
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- Sociology
- Statistics and research methods
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- Statistics and research methods (1)
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Genetics

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