Results 121 to 130 of about 1,250,329 (187)

Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome. [PDF]

Hum Genomics
Kovalskaia VA, Maslennikov DN, Svirepova KA, Tabakov VY, Tsabai PN, Shchoka EV, Beskorovainiy NS, Shubina J, Trofimov DY, Ryzhkova OP.   +9 more
europepmc   +1 more source

Joubert syndrome 26 protein enforces compartmentalized motility of a ciliary kinesin. [PDF]

Proc Natl Acad Sci U S A
Wang S, Li M, Chen G, Chen Z, Lei K, Ökten Z, Xie S, Zhou T, Li W, Ou G.   +9 more
europepmc   +1 more source

Joubert syndrome.

Indian pediatrics, 1995
A, Chattopadhyay, A M, Shah, S M, Khambadkone, K M, Dixit, B A, Bharucha, S F, Irani   +5 more
openaire   +1 more source

Joubert syndrome gene <i>fam149b1</i> homolog, <i>xbx-4</i> , is required for multiple sensory behaviors. [PDF]

MicroPubl Biol
Ching K, Sternberg PW, Barr MM.
europepmc   +1 more source

Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvement. [PDF]

J Med Genet
D'Abrusco F, Gana S, Alfei E, Scarano E, Nicita F, Bertini ES, Digilio MC, Zanni G, Barbuti D, Carlicchi E, Pichiecchio A, D'Arrigo S, Serpieri V, Valente EM.   +13 more
europepmc   +1 more source

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

Joubert Syndrome

, 2012
openaire   +2 more sources

Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome. [PDF]

Genes (Basel)
Lo Giudice M, Borgione E, Giuliano M, Santa Paola S, Di Blasi FD, Pettinato R, Romano C, Scuderi C.   +7 more
europepmc   +1 more source

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant. [PDF]

Prenat Diagn
Casteleyn T, Vogt M, Weichert A, Zimmer B, Lala B, Henrich W, Königbauer JT.   +6 more
europepmc   +1 more source

Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges. [PDF]

Clin Case Rep
Ahmed AAE, Ahmed MMB, Ibrahim AGA, Aref AMA, Saidahmed TMA, Abd Elaziz OEO, Neel ZAA, Alkarar MMA, Altegani TMN, Mohammed AAA, Amin MHJ.   +10 more
europepmc   +1 more source