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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First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects von Pangalos, Constantinos, Hagnefelt, Birgitta, Lilakos, Konstantinos, Konialis, Christopher

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Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center's 30 Years' Experience and 90,000 Cases von Konialis, Christopher, Pangalos, Constantinos, InterGenetics

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Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasoun... von Konialis, Christopher, Assimakopoulos, Efstratios, Hagnefelt, Birgitta, Karapanou, Sophia, Sotiriadis, Alexandros, Pangalos, Constantinos

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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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Human embryo twinning with proof of monozygocity von Illmensee, Karl, Levanduski, Mike, Konialis, Christopher, Pangalos, Constantinos, Vithoulkas, Alexandros, Goudas, Vasilios T.

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GABRA1‐Related Disorders: From Genetic to Functional Pathways von Musto, Elisa, Liao, Vivian W. Y., Johannesen, Katrine M., Fenger, Christina D., Lederer, Damien, Kothur, Kavitha, Fisk, Katrina, Bennetts, Bruce, Vrielynck, Pascal, Delaby, Delphine, Ceulemans, Berten, Weckhuysen, Sarah, Sparber, Peter, Bouman, Arjan, Ardern‐Holmes, Simone, Troedson, Christopher, Battaglia, Domenica I., Goel, Himanshu, Feyma, Timothy, Bakhtiari, Somayeh, Tjoa, Linda, Boxill, Martin, Demina, Nina, Shchagina, Olga, Dadali, Elena, Kruer, Michael, Cantalupo, Gaetano, Contaldo, Ilaria, Polster, Tilman, Isidor, Bertrand, Bova, Stefania M., Fazeli, Walid, Wouters, Leen, Miranda, Maria J., Darra, Francesca, Pede, Elisa, Le Duc, Diana, Jamra, Rami Abou, Küry, Sébastien, Proietti, Jacopo, McSweeney, Niamh, Brokamp, Elly, Andrews, Peter Ian, Gouray Garcia, Marie, Chebib, Mary, Møller, Rikke S., Ahring, Philip K., Gardella, Elena

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