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Number of items: 3.

Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; Nickerson, Elizabeth; Elkhartoufi, Nadia; Scott, Eric; Spencer, Emily; Gabriel, Stacey; Thomas, Sophie; Ben-Zeev, Bruria; Bertini, Enrico; Boltshauser, Eugen; Chaouch, Malika; Cilio, Maria Roberta; de Jong, Mirjam M; Kayserili, Hulya; Ogur, Gonul; Poretti, Andrea; Signorini, Sabrina; Uziel, Graziella; Zaki, Maha S; Johnson, Colin; Attié-Bitach, Tania; Gleeson, Joseph G; Valente, Enza Maria (2013). Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics, 21(10):1074-1078.

Lee, Ji Eun; Silhavy, Jennifer L; Zaki, Maha S; Schroth, Jana; Bielas, Stephanie L; Marsh, Sarah E; Olvera, Jesus; Brancati, Francesco; Iannicelli, Miriam; Ikegami, Koji; Schlossman, Andrew M; Merriman, Barry; Attié-Bitach, Tania; Logan, Clare V; Glass, Ian A; Cluckey, Andrew; Louie, Carrie M; Lee, Jeong Ho; Raynes, Hilary R; Rapin, Isabelle; Castroviejo, Ignacio P; Setou, Mitsutoshi; Barbot, Clara; Boltshauser, Eugen; Nelson, Stanley F; Hildebrandt, Friedhelm; Johnson, Colin A; Doherty, Daniel A; Valente, Enza Maria; Gleeson, Joseph G (2012). CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics, 44(2):193-199.

Putoux, Audrey; Nampoothiri, Sheela; Laurent, Nicole; Cormier-Daire, Valérie; Beales, Philip L; Schinzel, Albert; Bartholdi, Deborah; Alby, Caroline; Thomas, Sophie; Elkhartoufi, Nadia; Ichkou, Amale; Litzler, Julie; Munnich, Arnold; Encha-Razavi, Férechté; Kannan, Rajesh; Faivre, Laurence; Boddaert, Nathalie; Rauch, Anita; Vekemans, Michel; Attié-Bitach, Tania (2012). Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics, 49(11):713-720.

This list was generated on Mon Jun 24 19:52:51 2019 CEST.