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Posts by BMJblogs :

  • Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia, Posted on January 13, 2013February 27, 2013 by BMJ in Uncategorized
  • Breakpoint mapping by Next Generation Sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations, Posted on January 13, 2013February 27, 2013 by BMJ in Uncategorized
  • Mutation of HERC2 causes developmental delay with Angelman-like features, Posted on December 15, 2012February 27, 2013 by BMJ in Uncategorized
  • Paternal deletion of the KCNQ1OT1 ICR results in defective imprinting and recurrent severe Intra-Uterine Growth Restriction, Posted on December 15, 2012February 27, 2013 by BMJ in Uncategorized
  • Pancreatic cancer risk in Peutz-Jeghers syndrome patients; a large cohort study and implications for surveillance, Posted on December 15, 2012February 27, 2013 by BMJ in Uncategorized
  • Mutation in MPDZ causes severe congenital hydrocephalus, Posted on December 15, 2012February 27, 2013 by BMJ in Uncategorized
  • IL12B SNPs and Copy number variation in IL23R gene associate with susceptibility to leprosy, Posted on December 15, 2012February 27, 2013 by BMJ in Uncategorized
  • EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia, Posted on November 28, 2012February 27, 2013 by BMJ in Uncategorized
  • Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A, Posted on November 17, 2012February 27, 2013 by BMJ in Uncategorized
  • Identification of a functional variant in the KIF5A- CYP27B1- METTL1- FAM119B locus associated with Multiple Sclerosis, Posted on November 17, 2012 by BMJ in Uncategorized
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