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Query Trace: Syndrome and CC2D2A[original query]

Joubert syndrome: genotyping a Northern European patient cohort. European journal of human genetics : EJHG 2015 Apr . Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi Similar articles in PubMed
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Journal of medical genetics 2012 Feb 49 (2): 126-37. Bachmann-Gagescu Ruxandra, Ishak Gisele E, Dempsey Jennifer C, Adkins Jonathan, O'Day Diana, Phelps Ian G, Gunay-Aygun Meral, Kline Antonie D, Szczaluba Krzysztof, Martorell Loreto, Alswaid Abdulrahman, Alrasheed Shatha, Pai Shashidhar, Izatt Louise, Ronan Anne, Parisi Melissa A, Mefford Heather, Glass Ian, Doherty D Similar articles in PubMed
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, Similar articles in PubMed