Search Results - Leka, Sofia

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  1. 1
    Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse

    Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse by Tata, Brooke, Huijbregts, Lukas, Jacquier, Sandrine, Csaba, Zsolt, Genin, Emmanuelle, Meyer, Vincent, Leka, Sofia, Dupont, Joelle, Charles, Perrine, Chevenne, Didier, Carel, Jean-Claude, Léger, Juliane, de Roux, Nicolas

    Published in PLoS biology
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  2. 2
    The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP)

    The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP) by Leka-Emiri, Sofia, Chrousos, George P., Kanaka-Gantenbein, Christina

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  3. 3
    Haploinsufficiency of Dmxl2 , Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse: e1001952

    Haploinsufficiency of Dmxl2 , Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse: e1001952 by Tata, Brooke, Huijbregts, Lukas, Jacquier, Sandrine, Csaba, Zsolt, Genin, Emmanuelle, Meyer, Vincent, Leka, Sofia, Dupont, Joelle, Charles, Perrine, Chevenne, Didier, Carel, Jean-Claude, Léger, Juliane, Roux, Nicolas de

    Published in PLoS biology
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  4. 4
    Growth Hormone Deficiency due to p.(Gln467Argfs64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome

    Growth Hormone Deficiency due to p.(Gln467Argfs64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome by Mouskou, Stella, Leka-Emiri, Sofia, Korona, Anastasia, Mastroyanni, Sotiria, Manolakos, Emmanouil, Papoulidis, Ioannis, Sekouris, Nick, Katerelos, Adamantios, Katsarou-Pectasides, Efstathia, Voudris, Konstantinos

    Published in Molecular syndromology
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  5. 5
    Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy

    Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy by Mouskou, Stella, Katerelos, Adamantios, Doulgeraki, Artemis, Leka-Emiri, Sofia, Manolakos, Emmanouil, Papoulidis, Ioannis, Ververi, Athina, Vartzelis, Georgios, Korona, Anastasia, Mastroyanni, Sotiria, Voudris, Konstantinos

    Published in Molecular syndromology
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  6. 6
    17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature

    17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature by Leka-Emiri, Sofia, Petrou, Vassilios, Manolakos, Emmanouil, Thomaidis, Loretta, Fotinou, Aspasia, Vlachopapadopoulou, Elpis, Michalacos, Stefanos

    Published in Molecular syndromology
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  7. 7
    Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022

    Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022 by Tseretopoulou, Xanthippi, Ali, Salma R, Bryce, Jillian, Amin, Nadia, Atapattu, Navoda, Bachega, Tania A S S, Baronio, Federico, Ortolano, Rita, Birkebaek, Niels H, Bonfig, Walter, Cools, Martine, Davies, Justin H, Thomas, Tessy, de Vries, Liat, Elsedfy, Heba, Amr, Nermine H, Flueck, Christa E, Globa, Evgenia, Guran, Tulay, Yavas-Abali, Zehra, Guven, Ayla, Hannema, Sabine E, Iotova, Violeta, Konrad, Daniel, Lenherr-Taube, Nina, Krone, Nils P, Leka-Emiri, Sofia, Vlachopapadopoulou, Elpis, Lichiardopol, Corina, Marginean, Otilia, Markosyan, Renata, Neumann, Uta, Niedziela, Marek, Banaszak-Ziemska, Magdalena, Phan-Hug, Franziska, Poyrazoglu, Sukran, Probst-Scheidegger, Ursina, Randell, Tabitha, Russo, Gianni, Salerno, Mariacarolina, Seneviratne, Sumudu, Shnorhavorian, Margarett, Thankamony, Ajay, Tadokoro-Curraro, Rieko, van den Akker, Erica, van Eck, Judith, Vieites, Ana, Wasniewska, Malgorzata, Ahmed, S Faisal

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  8. 8
    Growth Hormone Deficiency due to p.(Gln467Argfs64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome

    Growth Hormone Deficiency due to p.(Gln467Argfs64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome by Mouskou, Stella, Leka-Emiri, Sofia, Korona, Anastasia, Mastroyanni, Sotiria, Manolakos, Emmanouil, Papoulidis, Ioannis, Sekouris, Nick, Katerelos, Adamantios, Katsarou-Pectasides, Efstathia, Voudris, Konstantinos

    Published in Molecular syndromology
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  9. 9
    Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy

    Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy by Mouskou, Stella, Katerelos, Adamantios, Doulgeraki, Artemis, Leka-Emiri, Sofia, Manolakos, Emmanouil, Papoulidis, Ioannis, Ververi, Athina, Vartzelis, Georgios, Korona, Anastasia, Mastroyanni, Sotiria, Voudris, Konstantinos

    Published in Molecular syndromology
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