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Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy,
Posted on by BMJ in Uncategorized
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Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome,
Posted on by BMJ in Uncategorized
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Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus,
Posted on by BMJ in Uncategorized
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15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes,
Posted on by BMJ in Uncategorized
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Novel and known ribosomal causes of Diamond-Blackfan anemia identified through comprehensive genomic characterization,
Posted on by BMJ in Uncategorized
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A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis,
Posted on by BMJ in Uncategorized
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Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts,
Posted on by BMJ in Uncategorized
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A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi Family,
Posted on by BMJ in Uncategorized
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GPRASP2, a Novel Causative Gene implicated in an X-Linked Recessive Syndromic Hearing Loss,
Posted on by BMJ in Uncategorized
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A liminal stage after predictive testing for Huntington disease,
Posted on by BMJ in Uncategorized
