Works matching AU Demir, Korcan

Results: 125
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    Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

    Published in:
    European Journal of Pediatrics, 2025, v. 184, n. 1, p. 1, doi. 10.1007/s00431-024-05931-7
    By:
    • Çelik, Nurullah;
    • Demir, Korcan;
    • Dibeklioğlu, Saime Ergen;
    • Dündar, Bumin Nuri;
    • Hatipoğlu, Nihal;
    • Mutlu, Gül Yeşiltepe;
    • Arslan, Emrullah;
    • Yıldırımçakar, Didem;
    • Çayır, Atilla;
    • Hacıhamdioğlu, Bülent;
    • Sütçü, Zümrüt Kocabey;
    • Ünsal, Yağmur;
    • Karagüzel, Gülay
    Publication type:
    Article
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    TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

    Published in:
    Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 5/6, p. 419, doi. 10.1515/jpem-2012-0053
    By:
    • Cangul, Hakan;
    • Aycan, Zehra;
    • Saglam, Halil;
    • Forman, Julia R.;
    • Cetinkaya, Semra;
    • Tarim, Omer;
    • Bober, Ece;
    • Cesur, Yasar;
    • Kurtoglu, Selim;
    • Darendeliler, Feyza;
    • Bas, Veysel;
    • Eren, Erdal;
    • Demir, Korcan;
    • Kiraz, Aslihan;
    • Aydin, Banu K.;
    • Karthikeyan, Ambika;
    • Kendall, Michaela;
    • Boelaert, Kristien;
    • Shaw, Nick J.;
    • Kirk, Jeremy
    Publication type:
    Article
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    Nadir Görülen Bir Turner Sendromu Karyotipi: 45,X/47,XXX.

    Published in:
    Journal of Current Pediatrics / Guncel Pediatri, 2014, v. 12, n. 1, p. 43, doi. 10.4274/jcp.02996
    By:
    • Altıncık, Ayça;
    • Çatlı, Gönül;
    • Demir, Korcan;
    • Abacı, Ayhan;
    • Bora, Elçin;
    • Erçal, Derya;
    • Böber, Ece
    Publication type:
    Article
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    Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

    Published in:
    Human Genetics, 2015, v. 134, n. 2, p. 181, doi. 10.1007/s00439-014-1509-2
    By:
    • Walz, Katherina;
    • Brancati, Francesco;
    • Cohen, Devon;
    • Foster, Joseph;
    • Abad, Clemer;
    • Lei, Cao;
    • Zhang, Lily;
    • Diaz-Horta, Oscar;
    • Young, Juan;
    • Tekin, Mustafa;
    • Neilsen, Paul;
    • Callen, David;
    • Demir, Korcan;
    • Fisher, Richard;
    • Moffat, Michelle;
    • Verbeek, Nienke;
    • Bjørgo, Kathrine;
    • Lo Castro, Adriana;
    • Curatolo, Paolo;
    • Novelli, Giuseppe
    Publication type:
    Article
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    Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. e1204, doi. 10.1210/clinem/dgad606
    By:
    • Besci, Ozge;
    • de Freitas, Maria Christina Foss;
    • Guidorizzi, Natália Rossin;
    • Guler, Merve Celik;
    • Gilio, Donatella;
    • Maung, Jessica N.;
    • Schill, Rebecca L.;
    • Hoose, Keegan S.;
    • Obua, Bonje N.;
    • Gomes, Anabela D.;
    • Şimşir, Ilgın Yıldırım;
    • Demir, Korcan;
    • Akinci, Baris;
    • MacDougald, Ormond A.;
    • Oral, Elif A.
    Publication type:
    Article
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    A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 9, p. 2371, doi. 10.1210/clinem/dgad099
    By:
    • Besci, Özge;
    • Fırat, Sevde Nur;
    • Özen, Samim;
    • Çetinkaya, Semra;
    • Akın, Leyla;
    • Kör, Yılmaz;
    • Pekkolay, Zafer;
    • Özalkak, Şervan;
    • Özsu, Elif;
    • Erdeve, Şenay Savaş;
    • Poyrazoğlu, Şükran;
    • Berberoğlu, Merih;
    • Aydın, Murat;
    • Omma, Tülay;
    • Akıncı, Barış;
    • Demir, Korcan;
    • Oral, Elif Arioglu
    Publication type:
    Article
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    Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 5, p. e1924, doi. 10.1210/clinem/dgac016
    By:
    • Menevse, Tuba Seven;
    • Demirkol, Yasemin Kendir;
    • Tosun, Busra Gurpinar;
    • Bayramoglu, Elvan;
    • Yildiz, Melek;
    • Acar, Sezer;
    • Karaca, Seda Erisen;
    • Orbak, Zerrin;
    • Onder, Asan;
    • Sobu, Elif;
    • Anık, Ahmet;
    • Atay, Zeynep;
    • Bugrul, Fuat;
    • Bulus, Ayse Derya;
    • Demir, Korcan;
    • Dogan, Durmus;
    • Emeksiz, Hamdi Cihan;
    • Kirmizibekmez, Heves;
    • Murat, Nurhan Ozcan;
    • Yaman, Akan
    Publication type:
    Article
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    Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

    Published in:
    Diabetologia, 2022, v. 65, n. 2, p. 336, doi. 10.1007/s00125-021-05597-y
    By:
    • Patel, Kashyap A.;
    • Ozbek, Mehmet N.;
    • Yildiz, Melek;
    • Guran, Tulay;
    • Kocyigit, Cemil;
    • Acar, Sezer;
    • Siklar, Zeynep;
    • Atar, Muge;
    • Colclough, Kevin;
    • Houghton, Jayne;
    • Johnson, Matthew B.;
    • Ellard, Sian;
    • Flanagan, Sarah E.;
    • Cizmecioglu, Filiz;
    • Berberoglu, Merih;
    • Demir, Korcan;
    • Catli, Gonul;
    • Bas, Serpil;
    • Akcay, Teoman;
    • Demirbilek, Huseyin
    Publication type:
    Article
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    Nationwide Turkish Cohort Study of Hypophosphatemic Rickets.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 2, p. 150, doi. 10.4274/jcrpe.galenos.2019.2019.0098
    By:
    • Siklar, Zeynep;
    • Turan, Serap;
    • Bereket, Abdullah;
    • Bas, Firdevs;
    • Güran, Tülay;
    • Akberzade, Azad;
    • Abaci, Ayhan;
    • Demir, Korcan;
    • Böber, Ece;
    • Özbek, Mehmet Nuri;
    • Kara, Cengiz;
    • Poyrazoglu, Sükran;
    • Aydin, Murat;
    • Kardelen, Asli;
    • Tarim, Ömer;
    • Eren, Erdal;
    • Hatipoglu, Nihal;
    • Büyükinan, Muammer;
    • Akyürek, Nesibe;
    • Çetinkaya, Semra
    Publication type:
    Article
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    Comparison of Treatment Regimens in Management of Severe Hypercalcemia Due to Vitamin D Intoxication in Children.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 2, p. 140, doi. 10.4274/jcrpe.galenos.2018.2018.0131
    By:
    • Demir, Korcan;
    • Döneray, Hakan;
    • Kara, Cengiz;
    • Atay, Zeynep;
    • Çetinkaya, Semra;
    • Çayır, Atilla;
    • Anık, Ahmet;
    • Eren, Erdal;
    • Uçaktürk, Ahmet;
    • Yılmaz, Gülay Can;
    • Ergür, Ayça Törel;
    • Kendirci, Mustafa;
    • Aycan, Zehra;
    • Bereket, Abdullah;
    • Aydın, Murat;
    • Orbak, Zerrin;
    • Özkan, Behzat
    Publication type:
    Article
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