日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing

患有糖尿病且至少伴有一种非自身免疫特征的儿童应考虑进行单基因糖尿病检测。

Myers, Rebecca; Yildiz, Melek; Nuri Ozbek, Mehmet; Manzoor, Jaida; Ibrahim, Mohsina; Yajnik, Chittaranjan; Atar, Muge; Şiklar, Zeynep; Acar, Sezer; Globa, Evgenia; Magdy Omar, Omneya; Demirbilek, Huseyin; Hassan, Samar; Demir, Korcan; Hanif, Misbah; Guran, Tulay; Hatipoglu, Nihal; Koçyiğit, Cemil; Colclough, Kevin; Houghton, Jayne; Hattersley, Andrew; Van Heugten, Rachel; Patel, Kashyap

Atypical Presentation and Course of ACTH-Independent Cushing’s Syndrome in Two Families

两家族中ACTH非依赖性库欣综合征的非典型表现和病程

Yüksek Acınıklı, Kübra; Acar, Sezer; Paketçi, Ahu; Kırbıyık, Özgür; Erbaş, Mert; Besci, Özge; Akın Kağızmanlı, Gözde; Kızmazoğlu, Deniz; Ulusoy, Oktay; Özer, Erdener; Yörükoğlu, Kutsal; Abacı, Ayhan; Güleryüz, Handan; Böber, Ece; Demir, Korcan

Nailfold Capillaroscopy: A Non-Invasive Tool for Early Detection of Microvascular Alterations in Children with Type 1 Diabetes Mellitus

甲襞毛细血管镜检查:一种用于早期检测1型糖尿病儿童微血管改变的非侵入性工具

Akın Kağızmanlı, Gözde; Aydın, Tuncay; Yüksek Acinikli, Kübra; İşgüder, Rana; Kızıldağ Karabacak, Zehra; Demir, Korcan; Böber, Ece; Ünsal, Şevket Erbil; Abacı, Ayhan

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Single sural nerve response: A reliable and practical method for diagnosis of diabetic peripheral neuropathy in children with type 1 diabetes

单侧腓肠神经反应:一种可靠且实用的诊断1型糖尿病患儿糖尿病周围神经病变的方法

Şenol, Hüseyin Bahadır; Şalbaş, Özge Yıldırım; Kadem, Elif Naz; Halk, Mustafa; Polat, Ayşe İpek; Aydın, Adem; Hız, Ayşe Semra; Demir, Korcan; Yiş, Uluç

Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome

父母遗传来源对家族性部分脂肪营养不良2型综合征临床表现的潜在影响

Gilio, Donatella; Besci, Ozge; Guidorizzi, Natália Rossin; Guler, Merve Celik; Simsir, Ilgin Yildirim; Pelosini, Caterina; Ceccarini, Giovanni; Demir, Korcan; Akinci, Baris; Santini, Ferruccio; Foss-Freitas, Maria Cristina; Oral, Elif A

Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment

努南综合征、癌症风险和生长激素治疗

Demir, Korcan; Yüksek Acınıklı, Kübra

What is the Most Effective Method for Predicting Adult Height in Boys with Constitutional Delay of Growth and Puberty?

对于先天性生长发育迟缓的男孩,预测其成年身高的最有效方法是什么?

Akın Kağızmanlı, Gözde; Özalp Kızılay, Deniz; Deveci Sevim, Reyhan; Yüksek Acinikli, Kübra; Mete Kalaycı, Fulya; Tekneci, Ayşegül; Demir, Korcan; Böber, Ece; Anık, Ahmet; Özen, Samim; Abacı, Ayhan

Evaluation of Growth Characteristics and Final Height of Cases Diagnosed with Noonan Syndrome on Growth Hormone Treatment

对接受生长激素治疗的努南综合征患者的生长特征和最终身高进行评估

Şıklar, Zeynep; Berberoğlu, Merih; Kızılcan Çetin, Sirmen; Yıldız, Melek; Turan, Serap; Darcan, Şükran; Çetinkaya, Semra; Hatipoğlu, Nihal; Yıldırım, Ruken; Demir, Korcan; Vermezoğlu, Öznur; Yavaş Abalı, Zehra; Özalp Kızılay, Deniz; Görkem Erdoğan, Nilay; Şiraz, Ülkü Gül; Orbak, Zerrin; Özgen, İlker Tolga; Bideci, Aysun; Selver Eklioğlu, Beray; Karakılıç Özturan, Esin; Tarçın, Gürkan; Bereket, Abdullah; Darendeliler, Feyza

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review

解读LMNA相关脂肪营养不良的临床表现:115例病例报告及系统综述

Besci, Ozge; Foss de Freitas, Maria Christina; Guidorizzi, Natália Rossin; Guler, Merve Celik; Gilio, Donatella; Maung, Jessica N; Schill, Rebecca L; Hoose, Keegan S; Obua, Bonje N; Gomes, Anabela D; Yıldırım Şimşir, Ilgın; Demir, Korcan; Akinci, Baris; MacDougald, Ormond A; Oral, Elif A