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Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans,
Posted on by BMJ in Uncategorized
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Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia,
Posted on by BMJ in Uncategorized
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A Novel Immunodeficiency Syndrome Associated with Partial Trisomy 19p13,
Posted on by BMJ in Uncategorized
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A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation,
Posted on by BMJ in Uncategorized
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Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility,
Posted on by BMJ in Uncategorized
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Prenylation defects in inherited retinal diseases,
Posted on by BMJ in Uncategorized
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Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome,
Posted on by BMJ in Uncategorized
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NECAP1 loss of function leads to a severe infantile epileptic encephalopathy,
Posted on by BMJ in Uncategorized
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The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy,
Posted on by BMJ in Uncategorized
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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype,
Posted on by BMJ in Uncategorized
