Search Results - Cinarli, Feride

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  1. 1
    The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

    The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease by Cinarli Yuksel, Feride, Nicolaou, Paschalis, Spontarelli, Kerri, Dohrn, Maike F., Rebelo, Adriana P., Koutsou, Pantelitsa, Georghiou, Anthi, Artigas, Pablo, Züchner, Stephan L., Kleopa, Kleopas A., Christodoulou, Kyproula

    Published in Journal of neurology
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  2. 2
    GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 , and POLR3A Genes in a Case Series and Review of the Literature

    GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 , and POLR3A Genes in a Case Series and Review of... by Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Tanteles, George A, Schiza, Melpo, Cinarli, Feride, Nicolaides, Nicolas C, Oulas, Anastasis, Spyrou, George M, Mantzoros, Christos S, Vlachakis, Dimitrios, Skordis, Nicos, Phylactou, Leonidas A

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  3. 3
    46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

    46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene by Neocleous, Vassos, Fanis, Pavlos, Cinarli, Feride, Kokotsis, Vasilis, Oulas, Anastasios, Toumba, Meropi, Spyrou, George M., Phylactou, Leonidas A., Skordis, Nicos

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