Search Results - "Uzunaliç, N"
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Calcified thrombosis of the inferior vena cava extending to renal veins in a newborn with homozygous MTHFR a1298c mutation
Published in Genetic counseling (01-01-2012)Get more information
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2
Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26)
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 -
3
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome
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