Search Results - "Uzunaliç, N"

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    Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26) by Aydin, B, Dilli, D, Beken, S, Zenciroglu, A, Uzunalic, N, Yuksekkaya, P, Akyuz, S G, Aydog, O, Okumus, N

    Published in Genetic counseling (01-01-2013)
    “…Renal hypoplasia is a congenital anomaly, the etiology of which is not yet fully known. Genetic studies have shown that certain genes, in utero environmental…”
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    Journal Article
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    Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome by Uzunalic, N, Zenciroglu, A, Beken, S, Piras, R, Dilli, D, Aydin, B, Chiappe, F, Okumus, N, Crisponi, L

    Published in Genetic counseling (2013)
    “…Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal…”
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    Journal Article