Search Results - Elena Dadali

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    Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report by Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov

    Published 2020
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    Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene by Sergey Nikitin, Evgeniya Melnik, Inna Sharkova, Aysylu Murtazina, Olga Shchagina, Victoriia Zabnenkova, Vadim Tsargush, Elena Dadali, Sergey Kutsev

    Published 2024
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    Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series by Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev

    Published 2024
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