Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care by Victoria Sherman, Elena Kondratyeva, Nataliya Kashirskaya, Anna Voronkova, Victoria Nikonova, Elena Zhekaite, Sergey Kutsev

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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

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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

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Decreased TREC and KREC levels in newborns with trisomy 21 by Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev

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