Výsledky vyhledávání - restriction fragment length polymorphism SHM

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study Autor Pagano, Stefano, Lopergolo, Diego, De Falco, Alessandro, Meossi, Camilla, Satolli, Sara, Pasquariello, Rosa, Trovato, Rosanna, Tessa, Alessandra, Casalini, Claudia, Pfanner, Lucia, Astrea, Guja, Battini, Roberta, Santorelli, Filippo M.

“…Background/Objectives: Schuurs–Hoeijmakers syndrome (SHMS), also known as PACS1 neurodevelopmental disorder, is a rare condition characterized by intellectual disability, distinctive craniofacial abnormalities, and congenital malformations…”
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Polymorphism and estimation of the number of MhcCyca class I and class II genes in laboratory strains of the common carp (Cyprinus carpio L.) Autor Stet, R J, van Erp, S H, Hermsen, T, Sültmann, H A, Egberts, E

“…Restriction fragment length polymorphisms (RFLPs) have been identified in the Mhc of the carp (MhcCyca) using class I (Cyca-Z) and class II (Cyca-YB) specific probes…”
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Combining MYD88 L265P mutation detection and clonality determination on CSF cellular and cell‐free DNA improves diagnosis of primary CNS lymphoma Autor Bravetti, Clotilde, Degaud, Michaël, Armand, Marine, Sourdeau, Elise, Mokhtari, Karima, Maloum, Karim, Osman, Jennifer, Verrier, Patricia, Houillier, Caroline, Roos‐Weil, Damien, Soussain, Carole, Choquet, Sylvain, Hoang‐Xuan, Khe, Le Garff‐Tavernier, Magali, Denis, Jérôme Alexandre, Davi, Frédéric

“…Summary Diagnosis of primary central nervous system lymphoma (PCNSL) is challenging, and although brain biopsy remains the gold standard, cerebrospinal fluid…”
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