Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: TMEM216[original query] |
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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. Journal of medical genetics 2023 2 . Serpieri Valentina, Mortarini Giulia, Loucks Hailey, Biagini Tommaso, Micalizzi Alessia, Palmieri Ilaria, Dempsey Jennifer C, D'Abrusco Fulvio, Mazzotta Concetta, Battini Roberta, Bertini Enrico Silvio, Boltshauser Eugen, Borgatti Renato, Brockmann Knut, D'Arrigo Stefano, Nardocci Nardo, Fischetto Rita, Agolini Emanuele, Novelli Antonio, Romano Alfonso, Romaniello Romina, Stanzial Franco, Signorini Sabrina, Strisciuglio Pietro, Gana Simone, Mazza Tommaso, Doherty Dan, Valente Enza Mar |
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