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Journal Abstract Search

464 related items for PubMed ID: 23622411

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  • 3. Joubert syndrome and related disorders.
    Paprocka J, Jamroz E.
    Neurol Neurochir Pol; 2012; 46(4):379-83. PubMed ID: 23023437
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  • 4. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
    Tsurusaki Y, Kobayashi Y, Hisano M, Ito S, Doi H, Nakashima M, Saitsu H, Matsumoto N, Miyake N.
    J Hum Genet; 2013 Feb; 58(2):113-5. PubMed ID: 23034536
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  • 5. Joubert Syndrome and related disorders.
    Brancati F, Dallapiccola B, Valente EM.
    Orphanet J Rare Dis; 2010 Jul 08; 5():20. PubMed ID: 20615230
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  • 8. AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM.
    Erol S, Demirel N, Bas AY, Ozcan B, Celik IH, Isik DU.
    Genet Couns; 2016 Jul 08; 27(3):367-371. PubMed ID: 30204965
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  • 9. Diagnosis of Joubert syndrome via ultrasonography.
    Buke B, Canverenler E, İpek G, Canverenler S, Akkaya H.
    J Med Ultrason (2001); 2017 Apr 08; 44(2):197-202. PubMed ID: 27785575
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  • 10. Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
    Romani M, Micalizzi A, Valente EM.
    Lancet Neurol; 2013 Sep 08; 12(9):894-905. PubMed ID: 23870701
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  • 11. Joubert syndrome: a case report.
    Singh J, Gathwala G, Agarwal S, Monika, Vaswani ND.
    J Indian Med Assoc; 2011 May 08; 109(5):348-9. PubMed ID: 22187775
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  • 12. Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
    Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E.
    Orphanet J Rare Dis; 2012 Jan 11; 7():4. PubMed ID: 22236771
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  • 18. Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders.
    Quarello E, Molho M, Garel C, Couture A, Legac MP, Moutard ML, Bault JP, Fallet-Bianco C, Guibaud L.
    Ultrasound Obstet Gynecol; 2014 Feb 11; 43(2):227-32. PubMed ID: 23868831
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  • 19. Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?
    Simms RJ, Sayer JA.
    Pediatr Radiol; 2010 Sep 11; 40(9):1581; author reply 1582. PubMed ID: 20490483
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