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Journal of Medical Genetics articles

622 total articles

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Journal of Medical Genetics back issues

2004
  1. January 2004
  2. February 2004
  3. March 2004

2003
  1. January 2003
  2. February 2003
  3. March 2003
  4. April 2003
  5. May 2003
  6. June 2003
  1. July 2003
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  6. December 2003

2002
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2001
  1. March 2001
  2. April 2001
  3. May 2001
  4. June 2001
  5. July 2001
  6. August 2001
  1. September 2001
  2. October 2001
  3. November 2001
  4. December 2001

Recent articles from Journal of Medical Genetics

Apolipoprotein E polymorphisms and risk of malaria.(Polymorphisms and Malaria)
March 1, 2004... Host genetic factors probably determine both susceptibility to infection and severity of damage by pathogens. A large number of polymorphisms have now been implicated in the onset, progression, and outcome of malaria infection, seeming to influence the ability of the host immune response to...

Correction.(Correction Notice)
March 1, 2004... This commentary should have been published alongside the article "Common apolipoprotein E polymorphisms and risk of clinical malaria in The Gambia" by C Aucan, AJ Walley, and AVS Hill in the January 2004 issue (J Med Genet 2004;41:21-24). This error is much regretted and we would like to...

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.(Original Article)
March 1, 2004... Introduction: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test. Objective: To assess a possible genotype-phenotype correlation...

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.(Original Article)
March 1, 2004... Familial hyperparathyroidism is not uncommon in clinical endocrine practice. It encompasses a spectrum of disorders including multiple endocrine neoplasia types 1 (MEN1) and 2A, hyperparathyroidism-jaw tumour syndrome (HPT-JT), familial hypocalciuric hypercalcaemia (FHH), and familial...

Akt activation and localisation correlate with tumour invasion and oncogene expression in thyroid cancer.(Original Article)
March 1, 2004... Introduction: Akt activation is involved in the pathogenesis of inherited thyroid cancer in Cowden's syndrome and in sporadic thyroid cancers. In cell culture, Akt regulates thyroid cell growth and survival; but recent data suggest that Akt also regulates cell motility in non-thyroid cell...

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