Genetic screening / counselling
Practice: Familial hypercholesterolaemia
Published 11 May 2012 - 11:58
Clinical Review: Clinical management of stuttering in children and adults
Published 24 Jun 2011
Clinical Review: Diagnosis and management of hereditary haemochromatosis
Published 19 Jan 2011
Editorial: Prevalence of variant CJD in the UK
Published 21 May 2009
Editorial: Statins and familial hypercholesterolaemia
Published 21 Jan 2009
Clinical Review: Management of sickle cell disease
Published 8 Sep 2008
Clinical Review: Hypercholesterolaemia and its management
Published 21 Aug 2008
Published 13 Mar 2008
Practice: Haemochromatosis
Published 28 Feb 2008
Published 11 Oct 2007
Latest from BMJ Journals
Archives of Disease in Childhood Effects of cytochrome P450 (CYP)2C19 polymorphisms on pharmacokinetics of phenobarbital in neonates and infants with seizures
Published 19 May 2012
Journal of Medical Genetics A human laterality disorder associated with recessive CCDC11 mutation
Published 10 May 2012
Journal of Medical Genetics Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms
Published 31 May 2012
Journal of Medical Genetics Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
Published 12 May 2012
Journal of Medical Genetics Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
Published 25 May 2012
Journal of Medical Genetics Clinical application of exome sequencing in undiagnosed genetic conditions
Published 11 May 2012






