Results 81 to 90 of about 5,733 (168)

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

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

“Mini Molar Tooth” Sign in POLR3B‐Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy [PDF]

Luca Marsili, Marcelo Kauffman, Blanca Talavera de la Esperanza, Zhuanzhuan Yu, Donald L. Gilbert, Alberto J. Espay   +5 more
openalex   +1 more source

Structural abnormalities of the brain other than molar tooth sign in joubert syndrome related disorders

, 2009
Efsun Senocak, Kader Karlı Oğuz, Göknur Haliloğlu, Meral Topçu, Ayşenur Cila   +4 more
openalex   +2 more sources

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

Retrospective study of clinically relevant maxillary and mandibular anatomy in all skull types of dogs and cats. [PDF]

Front Vet Sci
Schellenberg E, Lowe C.
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

Poretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation. [PDF]

Cureus
Radder S, Radder N.
europepmc   +1 more source

A Retrospective, Digital Evaluation of Tip and Torque of Teeth in Patients with Skeletal Class I, II and III Using Lateral Cephalograms, Orthopantomograms and Digitized Models. [PDF]

J Clin Med
Seidel CL, Kelemenova K, Baumert U, Wichelhaus A, Sabbagh H.   +4 more
europepmc   +1 more source

Molar Tooth Sign in an Ischemic Stroke Patient: Could It Be Asymptomatic Joubert Syndrome?

, 2014
Ersin Kasım ULUSOY, Şule BİLEN, Fikri AK   +2 more
openalex   +3 more sources