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    Rare Diseases Registries Workshop

    Thursday 23 February 2017 | 26 views

    On 21-22 March 2017 will be organized Rare Diseases Registries Workshop in Madrid, Spain. This event is supported by the Consumer, Health, Agriculture and Food ->>>

    Gordon syndrome with dominant KLHL3 mutations

    Thursday 23 February 2017 | 28 views

    The journal Journal of Pediatric Endocrinology and Metabolism has published an article about Gordon syndrome. Gordon syndrome (GS) is a rare form of monogenic hypertension ->>>

    Unsolved challenges in pediatric whole-exome sequencing

    Wednesday 22 February 2017 | 36 views

    The journal Critical Reviews in Clinical Laboratory Sciences has published an article about unsolved challenges in pediatric whole-exome sequencing. Whole-exome sequencing (WES) has been instrumental ->>>

    Osteoporosis-pseudoglioma syndrome

    Wednesday 22 February 2017 | 31 views

    The journal Ophthalmic Genetics has published a report about osteoporosis-pseudoglioma syndrome. Osteoporosis-pseudoglioma syndrome is a very rare disease mainly characterized by severe eye abnormalities and ->>>

    Genetics, diagnosis and clinical features of congenital hypodysfibrinogenaemia

    Tuesday 21 February 2017 | 40 views

    The journal Journal of Thrombosis and Haemostasis has published a report about hypodysfibrinogenaemia. Hypodysfibrinogenaemia is a rare disease characterised by decreased levels of a dysfunctional ->>>

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