Results 171 to 180 of about 20,451 (238)

Expansion of the Genotypic and Phenotypic Spectrum of <i>TCTN3</i>-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

A Case of Joubert Syndrome Accompanied with Retinal Abnormality [PDF]

, 2015
Jung Yul Park, Sung Il Kim, Hye Shin Jeon, Hee Young Choi   +3 more
openalex   +1 more source

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene. [PDF]

J Int Med Res, 2023
Kozina AA, Kanaeva GK, Baryshnikova NV, Ilinskaya AY, Kim AA, Erofeeva AV, Pogodina NA, Gadzhiyeva JP, Surkova EI, Ilinsky VV.   +9 more
europepmc   +1 more source

Joubert syndrome: accuracy of neuro-radiological findings [PDF]

, 2015
Nahla Arab, Yasser R Fahmy, Sattam S. Lingawi   +2 more
openalex   +1 more source

Phenotypic Spectrum of <i>KATNIP</i>-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

Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders. [PDF]

Cureus, 2023
Mano H, Kitamura K, Tachibana M, Suzuki A, Yamauchi T, Murakami T, Okumura Y, Koyama M, Shimizu K.   +8 more
europepmc   +1 more source

Joubert syndrome

, 2021
openaire   +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

A Rare Case of Transplanted Kidney Lymphangiectasia in a Patient With Joubert Syndrome. [PDF]

Cureus, 2023
Hussein MLM, Kolleri JJ, Al Sharani SA, Thabet AMJ, Twair A.   +4 more
europepmc   +1 more source

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

, 2012
Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Jana Schroth, Stephanie Bielas, Sarah Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M Schlossman, Barry Merriman, Tania Attié‐Bitach, Clare V. Logan, Ian Glass, Andrew Cluckey, Carrie M Louie, Jeong Ho Lee, Hilary R Raynes, Isabelle Rapin, Ignacio P Castroviejo, Mitsutoshi Setou, Clara Barbot, Eugen Boltshauser, Stanley F. Nelson, Friedhelm Hildebrandt, Colin A. Johnson, Daniel Doherty, Enza Maria Valente, Joseph G. Gleeson   +29 more
openalex   +2 more sources