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Survival and causes of death in patients with von Hippel-Lindau disease,
Posted on by BMJ in Uncategorized
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Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations,
Posted on by BMJ in Uncategorized
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Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies,
Posted on by BMJ in Uncategorized
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New insights in the molecular signature of advanced medullary thyroid cancer: evidence of a bad outcome of cases with double RET mutations,
Posted on by BMJ in Uncategorized
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Reader’s letter: comments on “Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells”,
Posted on by BMJ in Uncategorized
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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease,
Posted on by BMJ in Uncategorized
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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy,
Posted on by BMJ in Uncategorized
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Specifying the ovarian cancer risk threshold of ‘premenopausal risk-reducing salpingo-oophorectomy’ for ovarian cancer prevention: a cost-effectiveness analysis,
Posted on by BMJ in Uncategorized
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Identification of bi-allelicLRRK1mutations inosteosclerotic metaphyseal dysplasiaand evidence for locus heterogeneity,
Posted on by BMJ in Uncategorized
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Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head,
Posted on by BMJ in Uncategorized
