Results 91 to 100 of about 5,402 (155)

Joubert syndrome

, 2010
openaire   +2 more sources

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

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

, 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

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature. [PDF]

Genes (Basel)
Tedesco MG, Donati I, Romeo C, Dal Bo S, Nardini C, Innoceta AM, Parmeggiani G, Patanè A, Graziano C.   +8 more
europepmc   +1 more source

Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case. [PDF]

Cureus
Castellano C, Gomez Rosado JO, Witt A, Simon R, Esharif D.   +4 more
europepmc   +1 more source

Ophthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome. [PDF]

Neuroophthalmology
Bhate M, Bansal Bhandari S, Jayaraman D, Varma R, Jalali S.   +4 more
europepmc   +1 more source

Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome. [PDF]

Cureus
Hasegawa Y, Miura S, Kagami M, Dateki S, Miura K.   +4 more
europepmc   +1 more source

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33. [PDF]

Mol Syndromol
Aynekin B, Samur BM, Ozgul Gumus UG, Bilguvar K, Gulec A, Efthymiou S, Gumus H, Caglayan AO, Per H.   +8 more
europepmc   +1 more source