Results 151 to 160 of about 6,310 (174)

Joubert syndrome.

Indian pediatrics, 2002
R, Solomon, A K, Jana, S, Singh, A, Biswas   +3 more
openaire   +1 more source

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

Medicine (Baltimore)
Kim HM, Jo HS, Han JY, Choi IS, Song MK, Park HK.   +5 more
europepmc   +1 more source

A case of middle-aged central sleep apnea due to Joubert syndrome with different treatment effects of oxygen and acetazolamide. [PDF]

J Clin Sleep Med
Murashima R, Shiota S, Sugiyama A, Katsu K, Kuroda Y, Sato Y, Mitsuishi Y, Shiroshita N, Kawana F, Kasai T, Akashi T, Takahashi K.   +11 more
europepmc   +1 more source

Joubert Syndrome

The Internet Journal of Radiology, 2007
openaire   +1 more source

Joubert syndrome

, 2011
openaire   +1 more source

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome. [PDF]

Eur J Hum Genet
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM.   +25 more
europepmc   +1 more source

The Joubert Syndrome protein Ahi1 is required for photoreceptor outer segment formation in zebrafish

, 2016
Emma M. Lessieur, Glenn P. Lobo, Brian D. Perkins   +2 more
openalex   +1 more source

Medullary Nephrocalcinosis as the Initial Manifestation of Joubert Syndrome with a Novel INPP5E Mutation: A Case Report

Anwesha Das, Geetanjali Sethy, Swarupa Panda, Subham Moharana, Sukhomay Pal   +4 more
openalex   +1 more source