Результати пошуку - Bilgin Yüksel

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  1. 1
    Inactivating<i>KISS1</i>Mutation and Hypogonadotropic Hypogonadism

    Inactivating<i>KISS1</i>Mutation and Hypogonadotropic Hypogonadism за авторством A. Kemal Topaloğlu, Javier A. Tello, Leman Damla Kotan, Mehmet Nuri Özbek, Mehmet Bertan Yılmaz, Şeref Erdoğan, Fatih Gürbüz, Fatih Temiz, Robert P. Millar, Bilgin Yüksel

    Опубліковано 2012
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  2. 2
    Idiopathic Hyperphosphatasia and <i>TNFRSF11B</i> Mutations: Relationships Between Phenotype and Genotype

    Idiopathic Hyperphosphatasia and <i>TNFRSF11B</i> Mutations: Relationships Between Phenotype and Genotype за авторством Belinda Chong, Madhuri Hegde, Matthew Fawkner, Scott Simonet, Hamilton Cassinelli, Mahmut Çöker, John А. Kanis, J. Seidel, Cristina Tau, Beyhan Tüysüz, Bilgin Yüksel, Donald R. Love, Tim Cundy

    Опубліковано 2003
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  3. 3
    CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

    CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration за авторством B. Ian Hutchins, Leman Damla Kotan, Carol Taylor‐Burds, Yusuf Özkan, Paul J. Cheng, Fatih Gürbüz, Jean D. R. Tiong, Eda Mengen, Bilgin Yüksel, A. Kemal Topaloğlu, Susan Wray

    Опубліковано 2016
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  4. 4
    Mutations in FEZF1 Cause Kallmann Syndrome

    Mutations in FEZF1 Cause Kallmann Syndrome за авторством Leman Damla Kotan, B. Ian Hutchins, Yusuf Özkan, Fatma Demirel, Hudson Stoner, Paul J. Cheng, Ihsan Esen, Fatih Gürbüz, Yunus Kenan Bıçakcı, Eda Mengen, Bilgin Yüksel, Susan Wray, A. Kemal Topaloğlu

    Опубліковано 2014
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  5. 5
    TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

    TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction за авторством A. Kemal Topaloğlu, Frank Reimann, Metin Güçlü, Ayse Serap Yalin, Leman Damla Kotan, Keith Porter, Ayşe Serin, Neslihan Önenli Mungan, Joshua R. Cook, Mehmet Nuri Özbek, Şazi İmamoğlu, Nefise Sema Akalın, Bilgin Yüksel, Stephen O’Rahilly, Robert K. Semple

    Опубліковано 2008
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  6. 6
    Loss-of-Function Mutations in<i>PNPLA6</i>Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

    Loss-of-Function Mutations in<i>PNPLA6</i>Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome за авторством A. Kemal Topaloğlu, Alejandro Lomniczi, Doris Kretzschmar, Gregory A. Dissen, Leman Damla Kotan, Craig A. McArdle, Altuğ Koç, Ben C.J. Hamel, Metin Güçlü, Esra Deniz Papatya Çakır, Erdal Eren, Eda Mengen, Fatih Gürbüz, Mandy Cook, Juan M. Castellano, M. Burcu Kekil, Neslihan Önenli Mungan, Bilgin Yüksel, Sergio R. Ojeda

    Опубліковано 2014
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  7. 7
    Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism

    Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism за авторством Leman Damla Kotan, Gaëtan Ternier, Aydilek Dağdeviren Çakır, Hamdi Cihan Emeksiz, İhsan Turan, Gaspard Delpouve, Asli rya De Kardelen, Bahar Özcabı, Emregül Işık, Eda Mengen, Esra niz P. De Cakir, Ayşegül Yüksel, Sebahat Yılmaz Ağladıoğlu, Dilek Doğruel, Olcay Evliyaoğlu, Feyza Darendelıler, Fatih Gürbüz, Gamze Akkuş, Bilgin Yüksel, Paolo Giacobini, A. Kemal Topaloğlu

    Опубліковано 2021
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  8. 8
    Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

    Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort за авторством Tülay Güran, Federica Buonocore, Nurçin Saka, Mehmet Nuri Özbek, Zehra Aycan, Abdullah Bereket, Firdevs Baş, Şükran Darcan, Aysun Bıdecı, Ayla Güven, Korcan Demir, Ayşehan Akıncı, Muammer Büyükinan, Banu Küçükemre Aydın, Serap Turan, Sebahat Yılmaz Ağladıoğlu, Zeynep Atay, Zehra Yavaş Abalı, Ömer Tarım, Gönül Çatlı, Bilgin Yüksel, Teoman Akçay, Metin Yıldız, Samim Özen, Esra Döğer, Hüseyin Demirbilek, Ahmet Uçar, Emregül Işık, Bayram Özhan, Semih Bolu, İlker Tolga Özgen, Jenifer P. Suntharalingham, John C. Achermann

    Опубліковано 2015
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  9. 9
    Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

    Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability за авторством Anne Raimondo, Ali Chakera, Soren K. Thomsen, Kevin Colclough, Amy Barrett, Elisa De Franco, Alisson Chatelas, Hüseyin Demirbilek, Teoman Akçay, Hussein Alawneh, Sarah E. Flanagan, Martijn van de Bunt, Andrew T. Hattersley, Anna L. Gloyn, Sian Ellard, Mohammad A. Abduljabbar, Mahmoud Alzyoud, Syed Aman, Louise Bath, Parijat De, Neeta Deshpande, Erdem Durmaz, Frank Eickmeier, Nancy Samir Elbarbary, Marc Fillion, Sujatha Jagadeesh, Melanie Kershaw, Waqas Khan, Wojciech Młynarski, Kathryn Noyes, Catherine Peters, Nick Shaw, Irina Tiron, Doğa Türkkahraman, Lesley Turner, Khadiga Eltonbary, Bilgin Yüksel

    Опубліковано 2014
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  10. 10
    Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

    Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study за авторством Ediz Yeşilkaya, Abdullah Bereket, Feyza Darendelıler, Firdevs Baş, Şükran Poyrazoğlu, Banu Küçükemre Aydın, Şükran Darcan, Bumin Nuri Dündar, Muammer Büyükinan, Cengiz Kara, Erkan Sarı, Erdal Adal, Ayşehan Akıncı, Mehmet Emre Atabek, Fatma Demirel, Nurullah Çelik, Behzat Özkan, Bayram Özhan, Zerrin Orbak, Betül Ersoy, Murat Doğan, Ali Ataş, Serap Turan, Damla Gökşen, Ömer Tarım, Bilgin Yüksel, Oya Ercan, Şükrü Hatun, Enver Şimşek, Ayşenur Ökten, Ayhan Abacı, Hakan Döneray, Mehmet Nuri Özbek, Mehmet Keskın, Hasan Önal, Nesibe Akyürek, Kezban Bulan, Derya Tepe, Hamdi Cihan Emeksiz, Korcan Demir, Deniz Özalp Kızılay, A. Kemal Topaloğlu, Erdal Eren, Samim Özen, Saygın Abalı, Leyla Akın, Beray Selver Eklioğlu, Sultan Kaba, Ahmet Anık, Serpil Baş, Tolga Ünüvar, Halil Sağlam, Semih Bolu, İlker Tolga Özgen, Durmuş Doğan, Esra Deniz Papatya Çakır, Yaşar Şen, Nesibe Andıran, Filiz Çizmecioğlu, Olcay Evliyaoğlu, Gülay Karagüzel, Özgür Pirgon, Gönül Çatlı, Hatice Dilek Can, Fatih Gürbüz, Çiğdem Binay, Veysel Nijat Baş, Kürşat Fidancı, Adem Polat, Davut Gül, Cengizhan Açıkel, Hüseyin Demirbilek, Peyamı Cınaz, Carolyn A. Bondy

    Опубліковано 2015
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