Results 161 to 170 of about 20,451 (238)

Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study. [PDF]

Cureus
Ferrão T, Alvelos R, Mauricio K, Almeida S, Rebimbas S.   +4 more
europepmc   +1 more source

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects [PDF]

, 2013
Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Carmel Toomes, Chris F. Inglehearn, Colin A. Johnson   +6 more
openalex   +1 more source

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report. [PDF]

Medicine (Baltimore), 2023
Duque-Cordoba PA, Diaz-Ordoñez L, Gutierrez-Medina JD, Pachajoa H.   +3 more
europepmc   +1 more source

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease. [PDF]

BMJ Case Rep
Kumasaka I, Takushi H, Watanabe T, Ota C.   +3 more
europepmc   +1 more source

Clinical and genetic characteristics of 36 children with Joubert syndrome. [PDF]

Front Pediatr, 2023
Dong Y, Zhang K, Yao H, Jia T, Wang J, Zhu D, Xu F, Cheng M, Zhao S, Shi X.   +9 more
europepmc   +1 more source

Capillary Hemangioma in Joubert Syndrome: A Case Report. [PDF]

Cureus, 2023
Nassim HM, Alabdulqader RA, Najmi H, Alsawadi HM, Alotaibi HA.   +4 more
europepmc   +1 more source

Eye Movement Abnormalities in Joubert Syndrome

, 2009
Avery H. Weiss, Dan Doherty, Melissa A. Parisi, Dennis Shaw, Ian Glass, James O. Phillips   +5 more
openalex   +1 more source

MKS1 regulates ciliary INPP5E levels in Joubert syndrome [PDF]

, 2015
Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen Duran, Jonathan Adkins, Sairam A Kumar, Dana Knutzen, Nine Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty   +26 more
openalex   +1 more source

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement. [PDF]

BMC Pediatr, 2023
Li Q, Liu Q, Liu S, Yu L, Yang Z, Wang C, Wang J, Sun S.   +7 more
europepmc   +1 more source

Joubert syndrome

, 2012
openaire   +2 more sources