Results 81 to 90 of about 6,310 (174)

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses [PDF]

Balkan Med J
Bozhinovski G, Terzikj M, Kubelka-Sabit K, Plaseska-Karanfilska D.   +3 more
europepmc   +2 more sources

Joubert syndrome [PDF]

, 2020
  +5 more sources

Joubert syndrome with bilateral peroneal neuropathies: A case report [PDF]

, 2023
Hyeong‐Min Kim, Hyun-Seok Jo, Jae‐Young Han, In‐Sung Choi, Min‐Keun Song, Hyeng‐Kyu Park   +5 more
openalex   +1 more source

ARL13B, a Joubert Syndrome-Associated Protein, Is Critical for Retinogenesis and Elaboration of Mouse Photoreceptor Outer Segments [PDF]

, 2018
Tanya L. Dilan, Abigail R. Moye, Ezequiel M. Salido, Thamaraiselvi Saravanan, Saravanan Kolandaivelu, Andrew F.X. Goldberg, Visvanathan Ramamurthy   +6 more
openalex   +1 more source

Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17

Нервно-мышечные болезни
The co-occurrence of two genetic disorders in a single patient, so called double trouble phenomenon, is a rare clinical scenario that significantly complicates the diagnostic process.
M. V. Sharova, T. V. Markova, A. L. Chukhrova, O. A. Shchagina, E. L. Dadali   +4 more
doaj   +1 more source

Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome [PDF]

, 2011
D. Pugash, T. E. Oh, Kendra Godwin, Ashley Robinson, Angela Byrne, M. I. Van Allen, Horacio Osiovich   +6 more
openalex   +1 more source

Photoclinic

مجله دانشگاه علوم پزشکی گرگان, 2016
Case presentation: A 20 month-old hypotonic boy with a history of preterm labor at 32 weeks of gestational age, secondary generalized seizures in infancy, hypothyroidism (T4: 2, TSH: 14); motor and speech developmental delay, mild  ataxia and renal ...
Hosseininejad SM, Safaeian B, Hosseini SA   +2 more
doaj  

Joubert Syndrome Associated with Leber's Congenital Amaurosis [PDF]

, 2008
Hee Kyung Yang, Young Suk Yu, Jeong‐Min Hwang   +2 more
openalex   +1 more source

Joubert Syndrome: Radiographic Images

Case Reports in Clinical Practice, 2017
No ...
Reza Bidaki, Azam Ghanei, Mohammad Ebrahim Ghanei, Ehsan Zarepur   +3 more
doaj  

Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment [PDF]

, 2020
Giulio Ruberto, Vincenzo Parisi, Chiara Bertone, Sabrina Signorini, Mauro Antonini, Enza Maria Valente, Federica Manzoni, Valentina Serpieri, Riccardo Fausto, Luciano Quaranta   +9 more
openalex   +1 more source