Results 151 to 160 of about 2,477,262 (230)

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

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

Joubert syndrome

, 2010
openaire   +2 more sources

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

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

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

Joubert Syndrome

, 2012
openaire   +2 more sources

Behavioral Correlates of Caregiver-Reported Oral Health of Individuals With Joubert Syndrome: A Cross-Sectional Observational Study. [PDF]

Spec Care Dentist
Aung SWKH, Orack J, Doherty D, Nelson T, Dempsey JC, Li SR, Chi DL.   +6 more
europepmc   +1 more source