Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa von Pironon, Nathalie, Gasparyan, Artyom, Yubero, María Joao, Duchatelet, Sabine, Hovhannesyan, Kristina, Leclerc-Mercier, Stephanie, Kostandyan, Natella, Palisson, Francis, Sarkisian, Tamara, Titeux, Matthias, Fuentes, Ignacia, Hovnanian, Alain

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities von Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M., Motazacker, M. Mahdi, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A., Sherr, Elliott H., Argilli, Emanuela, England, Eleina M., Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B., Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric

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The spectrum of phenylketonuria genotypes in the Armenian population: Identification of three novel mutant PAH alleles von Kostandyan, Natella, Britschgi, Corinne, Matevosyan, Albert, Oganezova, Alvina, Davtyan, Anahit, Blau, Nenad, Steinmann, Beat, Thöny, Beat

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