Results 121 to 130 of about 19,788 (203)

Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report. [PDF]

Cureus
Ito M, Koiwa C, Negishi T, Sawada D, Nakao S.   +4 more
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

Analysis of CT and MRI Manifestations of Joubert Syndrome. [PDF]

J Belg Soc Radiol, 2023
Liao DW, Zheng X.
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

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

TOPORS as a novel causal gene for Joubert syndrome. [PDF]

Am J Med Genet A, 2023
Strong A, Qu HQ, Cullina S, McManus ML, Zackai EH, Glessner J, Kenny EE, Hakonarson H.   +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

Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome. [PDF]

Cureus
Managi A, Zuiki M, Mitsuno R, Ichise E, Iehara T.   +4 more
europepmc   +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