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

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities

NRDC基因的双等位基因变异会导致一种神经发育障碍,其特征是新生儿死亡、小头畸形和脑部异常。

Pehlivan, Davut; Sandoval, Abigail; Maroofian, Reza; Lecoquierre, François; Al Shamsi, Aisha M; Lee, Gyu S; Yesilbas, Osman; Taylor, Preston; McDougal, Matthew B; Bahrambeigi, Vahid; Aryani, Omid; Ramirez, Juan Felipe; Salih, Khalid Hama; Al Alam, Chadi; Morsy, Heba; Hussien, Haytham; Omar, Tarek; Abdelrazek, Ibrahim M; Brehin, Anne Claire; Marafi, Dana; Kalayci, Tugba; Rahma, Jubran Abu; Talbeya, Jawabreh Kassem; Dabbah, Husein; Verspyck, Eric; Moosavian, Toktam; Fatih, Jawid M; Mitani, Tadahiro; Akay, Gulsen; Calame, Daniel G; Guerrot, Anne-Marie; Chung, Wendy K; Houlden, Henry; Lupski, James R; Shalata, Adel; Yoon, Wan Hee

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

儿童多系统炎症综合征(MIS-C)患者的杂合BTNL8变异

Evangelos Bellos # ,Dilys Santillo # ,Pierre Vantourout ,Heather R Jackson ,Amedine Duret ,Henry Hearn ,Yoann Seeleuthner ,Estelle Talouarn ,Stephanie Hodeib ,Harsita Patel ,Oliver Powell ,Sophya Yeoh ,Sobia Mustafa ,Dominic Habgood-Coote ,Samuel Nichols ,Leire Estramiana Elorrieta ,Giselle D'Souza ,Victoria J Wright ,Diego Estrada-Rivadeneyra ,Adriana H Tremoulet ,Kirsten B Dummer ,Stejara A Netea ,Antonio Condino-Neto ,Yu Lung Lau ,Esmeralda Núñez Cuadros ,Julie Toubiana ,Marisol Holanda Pena ,Frédéric Rieux-Laucat ,Charles-Edouard Luyt ,Filomeen Haerynck ,Jean Louis Mège ,Samya Chakravorty ,Elie Haddad ,Marie-Paule Morin ,Özge Metin Akcan ,Sevgi Keles ,Melike Emiroglu ,Gulsum Alkan ,Sadiye Kübra Tüter Öz ,Sefika Elmas Bozdemir ,Guillaume Morelle ,Alla Volokha ,Yasemin Kendir-Demirkol ,Betul Sözeri ,Taner Coskuner ,Aysun Yahsi ,Belgin Gulhan ,Saliha Kanik-Yuksek ,Gulsum Iclal Bayhan ,Aslinur Ozkaya-Parlakay ,Osman Yesilbas ,Nevin Hatipoglu ,Tayfun Ozcelik ,Alexandre Belot ,Emilie Chopin ,Vincent Barlogis ,Esra Sevketoglu ,Emin Menentoglu ,Zeynep Gokce Gayretli Aydin ,Marketa Bloomfield ,Suzan A AlKhater ,Cyril Cyrus ,Yuriy Stepanovskiy ,Anastasiia Bondarenko ,Fatma Nur Öz ,Meltem Polat ,Jiří Fremuth ,Jan Lebl ,Amyrath Geraldo ,Emmanuelle Jouanguy ,Paul Wellman ,Mark Peters ,Rebeca Pérez de Diego ,Lindsey Ann Edwards ,Christopher Chiu ,Mahdad Noursadeghi ,Alexandre Bolze ,Chisato Shimizu ,Myrsini Kaforou ,Melissa Shea Hamilton ,Jethro A Herberg ,Erica G Schmitt ,Agusti Rodriguez-Palmero ,Aurora Pujol ,Jihoon Kim ,Aurélie Cobat ,Laurent Abel ,Shen-Ying Zhang ,Jean-Laurent Casanova ,Taco W Kuijpers ,Jane C Burns ,Michael Levin ,Adrian C Hayday ,Vanessa Sancho-Shimizu

Percentile-Based Adaptive Immune Plasma Algorithm and Its Application to Engineering Optimization

基于百分位数的自适应免疫血浆算法及其在工程优化中的应用

Aslan, Selcuk; Demirci, Sercan; Oktay, Tugrul; Yesilbas, Erdal

Increased Severe Cases and New-Onset Type 1 Diabetes Among Children Presenting With Diabetic Ketoacidosis During First Year of COVID-19 Pandemic in Turkey

土耳其新冠疫情第一年,出现糖尿病酮症酸中毒的儿童重症病例和新发1型糖尿病病例增加

Kiral, Eylem; Kirel, Birgul; Havan, Merve; Keskin, Mehmet; Karaoglan, Murat; Yildirim, Ahmet; Kangin, Murat; Talay, Mehmet Nur; Urun, Tuba; Altug, Umit; Kesici, Selman; Tufan, Erennur; Kacmaz, Ebru; Bozan, Gurkan; Azapagasi, Ebru; Uysal Yazici, Mutlu; Ozturk, Zeynelabidin; Yesilbas, Osman; Karaguzel, Gulay; Kaya, Gulay; Barlas, Ulkem; Duyu, Muhterem; Boyraz, Merve; Sevketoglu, Esra; Akcay, Nihal; Hancili, Suna; Guven, Ayla; Dursun, Oǧuz; Ulgen Tekerek, Nazan; Ozcifci, Gokçen; Yazici, Pinar; Turanli, Eda; Kendirli, Tanil; Kahveci, Fevzi; Yetimakman, Ayse Filiz; Citak, Agop; Şik, Guntulu; Bingol, Ibrahim; Aygun, Fatih; Durak, Cansu; Yilmaz, Resul; Bugrul, Fuat; Sari, Yusuf; Tekguç, Hakan; Albayrak, Hatice; Yener, Nazik; Agin, Hasan; Soydan, Ekin; Yildizdas, Dincer; Dilek, Semine Ozdemir; Yalindag, Nilufer; Incekoy-Girgin, Feyza; Alacakir, Nuri; Tutunculer, Filiz; Arslanaoglu, Mehmet Ozgur; Aydin, Can; Bilgin, Muzaffer; Simsek, Enver; Dinleyici, Ener Cagri

Development of Antiarrhythmic Therapy-Resistant Ventricular Tachycardia, Ventricular Fibrillation, and Premature Ventricular Contractions in a 15-Year-Old Patient

一名15岁患者出现抗心律失常药物治疗无效的室性心动过速、室颤和室性早搏

Yozgat, Can Yilmaz; Yesilbas, Osman; Iscan, Akin; Yurtsever, Ismail; Temur, Hafize Otcu; Bayramova, Nigar; Ergun, Gokce; Tekin, Nur; Yozgat, Yilmaz

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

土耳其人群中神经发育障碍多位点致病变异的患病率较高

Tadahiro Mitani ,Sedat Isikay ,Alper Gezdirici ,Elif Yilmaz Gulec ,Jaya Punetha ,Jawid M Fatih ,Isabella Herman ,Gulsen Akay ,Haowei Du ,Daniel G Calame ,Akif Ayaz ,Tulay Tos ,Gozde Yesil ,Hatip Aydin ,Bilgen Geckinli ,Nursel Elcioglu ,Sukru Candan ,Ozlem Sezer ,Haktan Bagis Erdem ,Davut Gul ,Emine Demiral ,Muhsin Elmas ,Osman Yesilbas ,Betul Kilic ,Serdal Gungor ,Ahmet C Ceylan ,Sevcan Bozdogan ,Ozge Ozalp ,Salih Cicek ,Huseyin Aslan ,Sinem Yalcintepe ,Vehap Topcu ,Yavuz Bayram ,Christopher M Grochowski ,Angad Jolly ,Moez Dawood ,Ruizhi Duan ,Shalini N Jhangiani ,Harsha Doddapaneni ,Jianhong Hu ,Donna M Muzny ,Zeynep Coban Akdemir ,Ender Karaca ,Claudia M B Carvalho ,Richard A Gibbs ,Jennifer E Posey ,James R Lupski ,Davut Pehlivan

Acute Myocarditis and Eculizumab Caused Severe Cholestasis in a 17-Month-Old Child Who Has Hemolytic Uremic Syndrome Associated with Shiga Toxin-Producing Escherichia coli

一名患有与产志贺毒素大肠杆菌相关的溶血性尿毒综合征的17个月大儿童,因急性心肌炎和依库珠单抗治疗而出现严重胆汁淤积。

Yesilbas, Osman; Yozgat, Can Yilmaz; Akinci, Nurver; Sonmez, Sirin; Tekin, Eser; Talebazadeh, Faraz; Jafarov, Uzeyir; Temur, Hafize Otcu; Yozgat, Yilmaz

Sudden Cardiac Arrest and Malignant Ventricular Tachycardia in an 8-Year-Old Pediatric Patient Who Has Hemolytic Uremic Syndrome Associated with Shiga Toxin-Producing Escherichia coli

一名患有与产志贺毒素大肠杆菌相关的溶血性尿毒综合征的8岁儿科患者突发心脏骤停和恶性室性心动过速

Yesilbas, Osman; Yozgat, Can Yilmaz; Akinci, Nurver; Talebazadeh, Faraz; Jafarov, Uzeyir; Guney, Abdurrahman Zarif; Temur, Hafize Otcu; Yozgat, Yilmaz

Double Aortic Arch Mimics the Clinical Characteristics of Severe Reactive Airway Disease in a Pediatric Patient

双主动脉弓在儿科患者中表现出与严重反应性气道疾病相似的临床特征

Yesilbas, Osman; Kus, Hazar Dogus; Şik, Güntülü; Citak, Agop; Temur, Bahar; Yozgat, Can Yilmaz; Temur, Hafize Otcu; Cakir, Erkan; Yozgat, Yilmaz