Results 161 to 170 of about 19,788 (203)

Joubert syndrome.

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

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene. [PDF]

Am J Ophthalmol Case Rep
Elsayed MEA, Ali SM, Gardner C, Kozak I.
europepmc   +1 more source

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family. [PDF]

Front Genet
Fang X, Ma M, Rong W, Lian YY, Wu X, Gao Y, Li HP, Sheng X.   +7 more
europepmc   +1 more source

Joubert Syndrome

The Internet Journal of Radiology, 2007
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

Joubert syndrome

, 2019
openaire   +1 more source

Joubert syndrome

, 2011
openaire   +1 more source

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Joubert syndrome: A review

American Journal of Medical Genetics Part A, 1992
AbstractWe review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. We present the data regarding the clinical, neuroradiological, and ophthalmological manifestations and the prognosis of ...
Jorge M Saraiva
exaly   +3 more sources