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  1. 1
    Identification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing

    Identification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing von França, M.M., Funari, M.F.A., Nishi, M.Y., Narcizo, A.M., Domenice, S., Costa, E.M.F., Lerario, A.M., Mendonca, B.B.

    Veröffentlicht in Clinical genetics

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  2. 2
    Supplementary Material for: The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

    Supplementary Material for: The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis von Malaquias, A.C., Scalco, R.C., Fontenele E.G.P., Costalonga, E.F., Baldin, A.D., Braz, A.F., Funari M.F.A., Nishi, M.Y., Guerra-Junior, G., Mendonca, B.B.

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  3. 3
    Supplementary Material for: Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

    Supplementary Material for: Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia von De Bruin, C., Finlayson, C., Funari M.F.A., Vasques, G.A., Lucheze Freire, B., Lerario, A.M., Andrew, M., Hwa, V., Dauber, A., A.A.L., Jorge

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