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Journal Abstract Search

159 related items for PubMed ID: 19721866

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  • 5. [Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].
    Szczałuba K, Obersztyn E, Kozłowski K, Ravazzolo R, Gołabek B, Mazurczak T.
    Med Wieku Rozwoj; 2005; 9(2):195-203. PubMed ID: 16085960
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  • 10. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
    Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K.
    BMC Nephrol; 2017 Mar 23; 18(1):100. PubMed ID: 28335748
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  • 11. Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.
    Li X, Fan J, Fu R, Peng M, He J, Chen Q, Wang S, Chen C.
    Medicine (Baltimore); 2024 Mar 08; 103(10):e37442. PubMed ID: 38457557
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  • 14. Nail-patella syndrome.
    Witzgall R.
    Pflugers Arch; 2017 Aug 08; 469(7-8):927-936. PubMed ID: 28681095
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  • 16. Nail-patella syndrome. Overview on clinical and molecular findings.
    Bongers EM, Gubler MC, Knoers NV.
    Pediatr Nephrol; 2002 Sep 08; 17(9):703-12. PubMed ID: 12215822
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  • 19. Clinico-genetic study of nail-patella syndrome.
    Lee BH, Cho TJ, Choi HJ, Kang HK, Lim IS, Park YH, Ha IS, Choi Y, Cheong HI.
    J Korean Med Sci; 2009 Jan 08; 24 Suppl(Suppl 1):S82-6. PubMed ID: 19194568
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