Christian Netzer
AuthID: R-00J-5MS
1
TITLE: Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals Full Text
AUTHORS: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; ...More
PUBLISHED: 2023, SOURCE: HUMAN GENETICS
AUTHORS: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; ...More
PUBLISHED: 2023, SOURCE: HUMAN GENETICS
INDEXED IN: Scopus WOS
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TITLE: Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
AUTHORS: Shahida Moosa; Guilherme L Yamamoto; Lutz Garbes; Katharina Keupp; Ana Beleza Meireles; Carolina Araujo Moreno; Eugenia Ribeiro Valadares; Sergio B de Sousa; Sofia Maia; Jorge Saraiva; Rachel S Honjo; Chong Ae Kim; Hamilton Cabral de Menezes; Ekkehart Lausch; Pablo Villavicencio Lorini; Arsonval Lamounier; Tulio Canella B Bezerra Carniero; Cecilia Giunta; Marianne Rohrbach; Marco Janner; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 105, ISSUE: 4
AUTHORS: Shahida Moosa; Guilherme L Yamamoto; Lutz Garbes; Katharina Keupp; Ana Beleza Meireles; Carolina Araujo Moreno; Eugenia Ribeiro Valadares; Sergio B de Sousa; Sofia Maia; Jorge Saraiva; Rachel S Honjo; Chong Ae Kim; Hamilton Cabral de Menezes; Ekkehart Lausch; Pablo Villavicencio Lorini; Arsonval Lamounier; Tulio Canella B Bezerra Carniero; Cecilia Giunta; Marianne Rohrbach; Marco Janner; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 105, ISSUE: 4
INDEXED IN: Scopus WOS