Two case reports of B-cell lymphopenia associated with IGLL1 variants identified through newborn screening in Ukraine by Oksana Boyarchuk, Yaryna Romanyshyn, Ihor Savchak, Volodymyr Kravets, Volodymyr Kravets, Ivanna Shymanska, Halyna Makukh, Halyna Makukh

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Exome sequencing in 90 children with developmental delay: a single-center experience by Oksana Boyarchuk, Liubov Volianska, Olena Smashna, Halyna Makukh

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Comparative analysis of two TREC/KREC quantification methods for newborn screening of primary immunodeficiency with T- and B-lymphopenia used in Ukraine by Volodymyr Kravets, Ivanna Shymanska, Oksana Boyarchuk, Nataliya Matiytsiv, Oksana Arkhipova, Halyna Makukh

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Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report by Oksana Boyarchuk, Alla Volokha, Nataliia Yarema, Olga Dyvoniak, Tetyana Tomashivska, Ivanna Shymanska, Halyna Makukh, Jolan E. Walter, Jolan E. Walter

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Newborn screening for spinal muscular atrophy in Ukraine: from pilot project to national programme by Nataliia Olkhovych, Nataliia Samonenko, Tetiana Shkliarska, Serena Hill, Olena Grechanina, Mykola Veropotvelyan, Halyna Makukh, Oksana Barvinska, Nataliia Mytsyk, Tamara Dangouloff, Tetiana Ivanova, Laurent Servais, Nataliia Gorovenko

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