Works matching Joubert syndrome

Results: 639
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    儿童Joubert 综合征临床及遗传学分析.

    Published in:
    Chinese Journal of Contemporary Pediatrics, 2023, v. 25, n. 5, p. 497, doi. 10.7499/j.issn.1008-8830.2212069
    By:
    • 张广宇;
    • 赵云霞;
    • 赵会玲;
    • 唐国皓;
    • 王鹏亮;
    • 朱登纳
    Publication type:
    Article
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    Joubert syndrome diagnosed renally late.

    Published in:
    Clinical Kidney Journal, 2021, v. 14, n. 3, p. 1017, doi. 10.1093/ckj/sfaa007
    By:
    • Collard, Elizabeth;
    • Byrne, Catherine;
    • Georgiou, Michalis;
    • Michaelides, Michel;
    • Dixit, Abhijit
    Publication type:
    Article
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    MOLAR TOOTH SIGN - JOUBERT SYNDROME.

    Published in:
    Acta Medica Medianae, 2015, v. 54, n. 3, p. 74, doi. 10.5633/amm.2015.0312
    By:
    • Ranđelović, Dušica;
    • Mikić-Ranđelović, Tatjana;
    • Laketić, Darko
    Publication type:
    Article
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    Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72
    By:
    • Romani, Marta;
    • Micalizzi, Alessia;
    • Kraoua, Ichraf;
    • Dotti, Maria Teresa;
    • Cavallin, Mara;
    • Sztriha, László;
    • Ruta, Rosario;
    • Mancini, Francesca;
    • Mazza, Tommaso;
    • Castellana, Stefano;
    • Hanene, Benrhouma;
    • Carluccio, Maria Alessandra;
    • Darra, Francesca;
    • Máté, Adrienn;
    • Zimmermann, Alíz;
    • Gouider-Khouja, Neziha;
    • Valente, Enza Maria
    Publication type:
    Article
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    Joubert syndrome: A classic case.

    Published in:
    Journal of Family Medicine & Primary Care, 2019, v. 8, n. 1, p. 311, doi. 10.4103/jfmpc.jfmpc_165_18
    Publication type:
    Article
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    A Case of Joubert Syndrome with Chronic Kidney Disease.

    Published in:
    Indian Journal of Nephrology, 2021, v. 31, n. 1, p. 61, doi. 10.4103/ijn.IJN_287_19
    By:
    • Shamsudheen, M. P.;
    • Das, Uttara;
    • Taduri, Gangadhar;
    • Guditi, Swarnalatha;
    • Karthik, Raja;
    • Thakur, Rajani
    Publication type:
    Article
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    Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.

    Published in:
    Disability & Rehabilitation, 2022, v. 44, n. 18, p. 4966, doi. 10.1080/09638288.2021.1922516
    By:
    • Romaniello, Romina;
    • Gagliardi, Chiara;
    • Desalvo, Patrizia;
    • Provenzi, Livio;
    • Battini, Roberta;
    • Bertini, Enrico;
    • Bonati, Maria Teresa;
    • Briguglio, Marilena;
    • D'Arrigo, Stefano;
    • Dotti, Maria Teresa;
    • Giordano, Lucio;
    • Macaluso, Claudio;
    • Moroni, Isabella;
    • Nuovo, Sara;
    • Santucci, Margherita;
    • Signorini, Sabrina;
    • Stanzial, Franco;
    • Valente, Enza Maria;
    • Borgatti, Renato
    Publication type:
    Article
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    Hypopituitarism—A rare manifestation in Joubert syndrome: about 4 cases.

    Published in:
    AIMS Medical Science, 2024, v. 11, n. 3, p. 1, doi. 10.3934/medsci.2024022
    By:
    • Marczak, Elżbieta;
    • Szarras-Czapnik, Maria;
    • Wójcik, Małgorzata;
    • Zygmunt-Górska, Agata;
    • Starzyk, Jerzy;
    • Czyżowska, Karolina;
    • Szymańska, Anna;
    • Gołąb-Jenerał, Katarzyna;
    • Zachurzok, Agnieszka;
    • Moszczyńska, Elżbieta
    Publication type:
    Article
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    Joubert syndrome: report of 11 cases.

    Published in:
    Turkish Journal of Pediatrics, 2012, v. 54, n. 6, p. 605
    By:
    • İncecik, Faruk;
    • Hergüner, M. Özlem;
    • Altunbaşak, Şakir;
    • Gleeson, Joseph G.
    Publication type:
    Article