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

The relationship between urine heat shock protein 70 and congenital anomalies of the kidney and urinary tract: UTILISE study

尿液热休克蛋白70与肾脏和泌尿道先天性异常的关系:UTILISE研究

Aksu, Bagdagul; Afonso, Alberto Caldas; Akil, Ipek; Alpay, Harika; Atmis, Bahriye; Aydog, Ozlem; Bakkaloglu, Sevcan; Bayazıt, Aysun Karabay; Bayram, Meral Torun; Bilge, Ilmay; Bulut, Ipek Kaplan; Cetinkaya, Ayse Pinar Goksu; Comak, Elif; Demir, Belde Kasap; Dincel, Nida; Donmez, Osman; Durmus, Mehmet Akif; Dursun, Hasan; Dusunsel, Ruhan; Duzova, Ali; Ertan, Pelin; Gedikbasi, Asuman; Goknar, Nilufer; Guven, Sercin; Hacihamdioglu, Duygu; Jankauskiene, Augustina; Kalyoncu, Mukaddes; Kavukcu, Salih; Kenan, Bahriye Uzun; Kucuk, Nuran; Kural, Bahar; Litwin, Mieczysław; Montini, Giovanni; Morello, William; Obrycki, Lukasz; Omer, Beyhan; Misirli Ozdemir, Ebru; Ozkayin, Nese; Paripovic, Dusan; Pehlivanoglu, Cemile; Saygili, Seha; Schaefer, Franz; Schaefer, Susanne; Sonmez, Ferah; Tabel, Yilmaz; Tas, Nesrin; Tasdemir, Mehmet; Teixeira, Ana; Tekcan, Demet; Topaloglu, Rezan; Tulpar, Sebahat; Turkkan, Ozde Nisa; Uysal, Berfin; Uysalol, Metin; Vitkevic, Renata; Yavuz, Sevgi; Yel, Sibel; Yildirim, Tarik; Yildirim, Zeynep Yuruk; Yildiz, Nurdan; Yuksel, Selcuk; Yurtseven, Eray; Yilmaz, Alev

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

对原发性卵巢功能不全队列进行外显子组测序,揭示了一系列疾病的共同分子病因

Jolly, Angad; Bayram, Yavuz; Turan, Serap; Aycan, Zehra; Tos, Tulay; Abali, Zehra Yavas; Hacihamdioglu, Bulent; Coban Akdemir, Zeynep Hande; Hijazi, Hadia; Bas, Serpil; Atay, Zeynep; Guran, Tulay; Abali, Saygin; Bas, Firdevs; Darendeliler, Feyza; Colombo, Roberto; Barakat, Tahsin Stefan; Rinne, Tuula; White, Janson J; Yesil, Gozde; Gezdirici, Alper; Gulec, Elif Yilmaz; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini N; Muzny, Donna M; Poyrazoglu, Sukran; Bereket, Abdullah; Gibbs, Richard A; Posey, Jennifer E; Lupski, James R

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

鞘氨醇-1-磷酸裂解酶突变导致原发性肾上腺功能不全和类固醇抵抗性肾病综合征

Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj, Eirini Meimaridou, Federica Buonocore, Moin Saleem, Jenny Hurcombe, Agnieszka Bierzynska, Eliana Barbagelata, Ignacio Bergadá, Hamilton Cassinelli, Urmi Das, Ruth Krone, Bulent Hacihamdioglu, Erkan Sari, Ediz Yesilkaya, Helen L Storr, Maria Cleme

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

特发性低促性腺激素性性腺功能减退症中的CCDC141基因突变

Turan, Ihsan; Hutchins, B Ian; Hacihamdioglu, Bulent; Kotan, L Damla; Gurbuz, Fatih; Ulubay, Ayca; Mengen, Eda; Yuksel, Bilgin; Wray, Susan; Topaloglu, A Kemal

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

全球肾病性胱氨酸病概况:一项来自30个国家的调查结果

Bertholet-Thomas, Aurélia; Berthiller, Julien; Tasic, Velibor; Kassai, Behrouz; Otukesh, Hasan; Greco, Marcella; Ehrich, Jochen; de Paula Bernardes, Rejane; Deschênes, Georges; Hulton, Sally-Ann; Fischbach, Michel; Soulami, Kenza; Saeed, Bassam; Valavi, Ehsan; Cobenas, Carlos Jose; Hacihamdioglu, Bülent; Weiler, Gabrielle; Cochat, Pierre; Bacchetta, Justine