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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 by BMJ in Uncategorized
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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 by BMJ in Uncategorized
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Mutation of HERC2 causes developmental delay with Angelman-like features,
Posted on by BMJ in Uncategorized
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Paternal deletion of the KCNQ1OT1 ICR results in defective imprinting and recurrent severe Intra-Uterine Growth Restriction,
Posted on by BMJ in Uncategorized
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Pancreatic cancer risk in Peutz-Jeghers syndrome patients; a large cohort study and implications for surveillance,
Posted on by BMJ in Uncategorized
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Mutation in MPDZ causes severe congenital hydrocephalus,
Posted on by BMJ in Uncategorized
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IL12B SNPs and Copy number variation in IL23R gene associate with susceptibility to leprosy,
Posted on by BMJ in Uncategorized
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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia,
Posted on by BMJ in Uncategorized
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Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A,
Posted on by BMJ in Uncategorized
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Identification of a functional variant in the KIF5A- CYP27B1- METTL1- FAM119B locus associated with Multiple Sclerosis,
Posted on by BMJ in Uncategorized
