Results 181 to 190 of about 2,206,162 (231)

Prenatal diagnosis of Joubert syndrome: A case report.

Radiol Case Rep
Yen VTH.
europepmc   +1 more source

Joubert syndrome presenting bilateral peroneal neuropathies: A case report. [PDF]

Medicine (Baltimore)
Kim HM, Jo HS, Han JY, Choi IS, Song MK, Park HK.   +5 more
europepmc   +1 more source

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene. [PDF]

Am J Ophthalmol Case Rep
Elsayed MEA, Ali SM, Gardner C, Kozak I.
europepmc   +1 more source

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome. [PDF]

Eur J Hum Genet
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM.   +25 more
europepmc   +1 more source

CT and MR Imaging Findings in the Joubert Syndrome, a "Ciliopathy"

, 2015
Kaveh Akbari, Christine M. Fellner, Daniel Flöry, Franz A. Fellner   +3 more
openalex   +2 more sources

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family. [PDF]

Front Genet
Fang X, Ma M, Rong W, Lian YY, Wu X, Gao Y, Li HP, Sheng X.   +7 more
europepmc   +1 more source

Dataset Supporting Publication Entitled: Kiaa0556 Is A Novel Ciliary Basal Body Component Mutated In Joubert Syndrome

, 2015
Awm Sanders, Erik de Vrieze, Anas M. Alazami, EB Malarkey, Stefanie Kuhns, BK Yoder, Erwin van Wijk, Fowzan S. Alkuraya, OE Blacque   +8 more
openalex   +2 more sources

Author response: Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

, 2015
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Özgür Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S. Zaki, Kathryn J. Swoboda, Joanne Milisa-Drautz, William B. Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose‐Mary Boustany, Carol L. Clericuzio, Stefano D’Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A. Johnson, Michael Freilinger, Keith K. Vaux, Stacey Gabriel, Pedro Aza‐Blanc, Susanne Heynen‐Genel, Trey Ideker, Brian David Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G. Gleeson   +43 more
openalex   +1 more source

Decision letter: Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

, 2015

openalex   +1 more source

Novel CC2D2A compound heterozygous mutations cause Joubert syndrome

, 2016
Daimin Xiao, Chunli Lv, Zhimin Zhang, Mingsong Wu, Xiang Zheng, Lei Yang, Xueying Li, Guan Wu, Jindong Chen   +8 more
openalex   +2 more sources