An Indian boy with griscelli syndrome type 2: Case report and review of literature by Ankur Singh, Amit Garg, Seema Kapoor, Nita Khurana, Miriam Entesarian, Bianca Tesi

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The clinical spectrum of ataxia telangiectasia in a cohort in Sweden by Hannes Lindahl, Eva Svensson, Annika Danielsson, Andreas Puschmann, Per Svenningson, Bianca Tesi, Martin Paucar

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Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets by Donatella Galgano, Tayebeh Soheili, Matthias Voss, Lamberto Torralba-Raga, Bianca Tesi, Bianca Tesi, Frank Cichocki, Isabelle Andre, Isabelle Andre, Jens Rettig, Marina Cavazzana, Marina Cavazzana, Marina Cavazzana, Marina Cavazzana, Yenan Bryceson, Yenan Bryceson

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Corrigendum: Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients by Jakob Theorell, Indre Bileviciute-Ljungar, Indre Bileviciute-Ljungar, Bianca Tesi, Bianca Tesi, Heinrich Schlums, Mette Sophie Johnsgaard, Babak Asadi-Azarbaijani, Babak Asadi-Azarbaijani, Elin Bolle Strand, Elin Bolle Strand, Yenan T. Bryceson, Yenan T. Bryceson

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Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients by Jakob Theorell, Indre Bileviciute-Ljungar, Indre Bileviciute-Ljungar, Bianca Tesi, Bianca Tesi, Heinrich Schlums, Mette Sophie Johnsgaard, Babak Asadi-Azarbaijani, Babak Asadi-Azarbaijani, Elin Bolle Strand, Elin Bolle Strand, Yenan T. Bryceson, Yenan T. Bryceson

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A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication by Yasemin Işık Balcı, Funda Özgürler Akpınar, Aziz Polat, Fethullah Kenar, Bianca Tesi, Tatiana Greenwood, Nagihan Yalçın, Ali Koçyiğit

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Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants by Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt‐Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren

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Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation by Carolina Maya-González, Sandra Wessman, Sandra Wessman, Kristina Lagerstedt-Robinson, Kristina Lagerstedt-Robinson, Fulya Taylan, Fulya Taylan, Bianca Tesi, Bianca Tesi, Bianca Tesi, Ekaterina Kuchinskaya, Ekaterina Kuchinskaya, W. Glenn McCluggage, Anna Poluha, Anna Poluha, Stefan Holm, Ricard Nergårdh, Teresita Díaz De Ståhl, Teresita Díaz De Ståhl, Charlotte Höybye, Charlotte Höybye, Giorgio Tettamanti, Giorgio Tettamanti, Angelica Maria Delgado-Vega, Angelica Maria Delgado-Vega, Anna Skarin Nordenvall, Anna Skarin Nordenvall, Ann Nordgren, Ann Nordgren, Ann Nordgren, Ann Nordgren

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Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up by Panagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara-Kautto, Asbjørg Stray-Pedersen, Lone Smidstrup Friis, Ingunn Dybedal, Randi Hovland, Kirsi Jahnukainen, Klas Raaschou-Jensen, Per Ljungman, Cecilie F. Rustad, Charlotte K. Lautrup, Outi Kilpivaara, Astrid Olsnes Kittang, Kirsten Grønbæk, Jörg Cammenga, Eva Hellström-Lindberg, Mette K. Andersen

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P506: CLINICAL VALIDATION OF THE NORDIC GUIDELINES FOR GERMLINE TESTING IN MYELOID NEOPLASMS: RESULTS FROM A MULTI-CENTER PROSPECTIVE COHORT STUDY by Bianca Tesi, Anna Eriksson, Berivan Baskin, Vladimir Lazarevic, Stefan Deneberg, Martin Höglund, Linda Fogelstrand, Johanna Ungerstedt, Tatjana Pandzic, Magnus Tobiasson, Hege Gravdahl Garelius, Ekaterina Kuchinskaya, Fredrik Persson, Helena Ågerstam, Bertil Uggla, Helene Hallböök, Thoas Fioretos, Ann-Charlotte Thuresson, Sören Lehmann, Claes Ladenvall, Gisela Barbany, Lovisa Vennström, Elisabeth Ejerblad, Lucia Cavelier, Jörg Cammenga, Martin Jädersten, Eva Hellström Lindberg, Panagiotis Baliakas

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Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis by Nina K. Serwas, Birgit Hoeger, Rico C. Ardy, Sigrun V. Stulz, Zhenhua Sui, Nima Memaran, Marie Meeths, Ana Krolo, Özlem Yüce Petronczki, Laurène Pfajfer, Tie Z. Hou, Neil Halliday, Elisangela Santos-Valente, Artem Kalinichenko, Alan Kennedy, Emily M. Mace, Malini Mukherjee, Bianca Tesi, Anna Schrempf, Winfried F. Pickl, Joanna I. Loizou, Renate Kain, Bettina Bidmon-Fliegenschnee, Jean-Nicolas Schickel, Salomé Glauzy, Jakob Huemer, Wojciech Garncarz, Elisabeth Salzer, Iro Pierides, Ivan Bilic, Jens Thiel, Peter Priftakis, Pinaki P. Banerjee, Elisabeth Förster-Waldl, David Medgyesi, Wolf-Dietrich Huber, Jordan S. Orange, Eric Meffre, David M. Sansom, Yenan T. Bryceson, Amnon Altman, Kaan Boztug

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