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Epigenetic state and expression of imprinted genes in umbilical cord correlates with growth parameters in human pregnancy,
Posted on by BMJ in Uncategorized
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Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events,
Posted on by BMJ in Uncategorized
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The speech gene FOXP2 is not imprinted,
Posted on by BMJ in Uncategorized
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Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status,
Posted on by BMJ in Uncategorized
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Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia,
Posted on by BMJ in Uncategorized
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Complex I deficiency: clinical features, biochemistry and molecular genetics,
Posted on by BMJ in Uncategorized
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Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency,
Posted on by BMJ in Uncategorized
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Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma,
Posted on by BMJ in Uncategorized
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Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentation,
Posted on by BMJ in Uncategorized
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Quantitative trait locus analysis for next-generation sequencing with the functional linear models,
Posted on by BMJ in Uncategorized
