Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Syndrome and RPGRIP1L[original query] |
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clinical genetics 2008 Aug 74 (2): 164-70. Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy J L, Barrano G, Bertini E, Emma F, Rigoli L, , Dallapiccola B, Gleeson J G, Valente E |
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, |
Copy number variants in hypoplastic right heart syndrome. American journal of medical genetics. Part A 2018 10 176 (12): 2760-2767. Giannakou Andreas, Sicko Robert J, Kay Denise M, Zhang Wei, Romitti Paul A, Caggana Michele, Shaw Gary M, Jelliffe-Pawlowski Laura L, Mills James |
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