Showing 1 - 5 results of 5 for search 'Jasmin Beygo', query time: 0.03s
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Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains by David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer, the Nomenclature group of the European Network for Human Congenital Imprinting Disorders
Published 2018-02-01
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An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype by Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, Palma Finelli, Palma Finelli, Lidia Larizza, María Arnedo, Ariadna Ayerza-Casas, Ariadna Ayerza-Casas, Julia Del Rincón, Laura Trujillano, Laura Trujillano, Beatriz Morte, Luis A. Pérez-Jurado, Luis A. Pérez-Jurado, Luis A. Pérez-Jurado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Elsa Leitão, Jasmin Beygo, Christina Lich, Fabian Kilpert, Sabine Kaya, Christel Depienne, Frank J. Kaiser, Frank J. Kaiser, Feliciano J. Ramos, Beatriz Puisac, Juan Pié
Published 2024-11-01
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Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis by Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer
Published 2024-08-01
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PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals by Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Maria K Haanpää, Hannele Koillinen, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Dagmar Wieczorek, Frank J Kaiser, Frank J Kaiser, Alma Kuechler, Alma Kuechler
Published 2023-01-01
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