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Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with Multiple Lentigines,
Posted on by BMJ in Uncategorized
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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity,
Posted on by BMJ in Uncategorized
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Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure,
Posted on by BMJ in Uncategorized
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Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers,
Posted on by BMJ in Uncategorized
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A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life,
Posted on by BMJ in Uncategorized
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Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients,
Posted on by BMJ in Uncategorized
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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype,
Posted on by BMJ in Uncategorized
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Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients,
Posted on by BMJ in Uncategorized
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WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome,
Posted on by BMJ in Uncategorized
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Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses,
Posted on by BMJ in Uncategorized
