Birth of a Healthy Histocompatible Sibling following Preimplantation Genetic Diagnosis for Chronic Granulomatous Disease at the Blastocyst Stage Coupled to HLA Typing von Pangalos, Constantinos G., Hagnefelt, Birgitta, Kokkali, Georgia, Pantos, Konstantinos, Konialis, Christopher P.

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CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis? von Konialis, Christopher P, Hagnefelt, Birgitta, Kazamia, Constantina, Karapanou, Sophia, Pangalos, Constantinos

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CFTR [Delta]F508 Mutation Detection from Dried Blood Samples in the First Trimester of Pregnancy: A Possible Routine Prenatal Screening Strategy for Cystic Fibrosis? von Konialis, Christopher P, Hagnefelt, Birgitta, Kazamia, Constantina, Karapanou, Sophia, Pangalos, Constantinos

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Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome von Gontika, Maria P., Konialis, Christopher, Pangalos, Constantine, Papavasiliou, Antigone

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Routine application of a novel MLPA-based first-line screening test uncovers clinically relevant copy number aberrations in haematological malignancies undetectable by conventional... von Konialis, Christopher, Savola, Suvi, Karapanou, Sophia, Markaki, Aggeliki, Karabela, Maria, Polychronopoulou, Sophia, Ampatzidou, Maria, Voulgarelis, Michael, Viniou, Nora-Athina, Variami, Eleni, Koumarianou, Argyro, Zoi, Katerina, Hagnefelt, Birgitta, Schouten, Jan P., Pangalos, Constantinos

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