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1دورية أكاديمية
المؤلفون: Margot Charlotte Riou, Muriel de La Dure-Molla, Stéphane Kerner, Sophie Rondeau, Adrien Legendre, Valerie Cormier-Daire, Benjamin P. J. Fournier
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: Singleton–Merten syndrome, rare diseases, oral physiopathology, genetics, type 1 interferonopathy, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Rosario Francisco-Velilla, Azman Embarc-Buh, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey
المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)
مصطلحات موضوعية: Gemin5, ataxia, cerebellar atrophy, developmental delay, neurodegeneration, cell death, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3
المؤلفون: Deepa S, Rajan, Sukhleen, Kour, Tyler R, Fortuna, Margot A, Cousin, Sarah S, Barnett, Zhiyv, Niu, Dusica, Babovic-Vuksanovic, Eric W, Klee, Brian, Kirmse, Micheil, Innes, Siri Lynne, Rydning, Kaja K, Selmer, Magnus Dehli, Vigeland, Anne Kjersti, Erichsen, Andrea H, Nemeth, Francisca, Millan, Catherine, DeVile, Katherine, Fawcett, Adrien, Legendre, David, Sims, Ricardo Parolin, Schnekenberg, Lydie, Burglen, Sandra, Mercier, Somayeh, Bakhtiari, Rosario, Francisco-Velilla, Azman, Embarc-Buh, Encarnacion, Martinez-Salas, Kristen, Wigby, Jerica, Lenberg, Jennifer R, Friedman, Michael C, Kruer, Udai Bhan, Pandey
المصدر: Frontiers in cell and developmental biology. 10
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5174e5128f2b13628791665353705fe7
https://pubmed.ncbi.nlm.nih.gov/35295849