Results 161 to 170 of about 2,477,262 (230)

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

Joubert syndrome

, 2021
openaire   +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

Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations. [PDF]

Ther Adv Respir Dis
Ju-Wang JD, Dempsey JC, Zhang C, Doherty D, Witmans M, Tablizo MA, Chen ML.   +6 more
europepmc   +1 more source

Retraction notice to "Prenatal Diagnosis of Joubert Syndrome: A case report" [Radiol. Case Rep. 19/10 (October 2024) 4369-4374]. [PDF]

Radiol Case Rep
Yen VTH.
europepmc   +1 more source

Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign. [PDF]

Ultrasound Obstet Gynecol
Pooh RK, Takeda M, Itoh K, Yoshimatsu J, Ogo K, Machida M, Ohashi H, Shimokawa O.   +7 more
europepmc   +1 more source