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

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants

拓展原发性常染色体隐性遗传小头畸形的临床和分子谱:新型 CDK5RAP2 基因变异及内含子变异的功能解析

Yeter, Burcu; Kendir Demirkol, Yasemin; Usluer, Esra; Görüşen Kavak, İpek; Ergin, Sena Gjota; Elçioğlu, Nursel H

Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum

COL2A1相关疾病表型变异的诊断挑战:四种新变异拓展了临床谱

Yeter, Burcu; Kendir Demirkol, Yasemin; Eser, Metin; Akgülle, Ahmet Hamdi; Sözeri, Betül; Kırmızıbekmez, Heves

A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2

一例被诊断为身材矮小、面部畸形和骨骼异常(伴或不伴心脏异常)的患者,其携带一种新的纯合错义SCUBE3变异,并进行了蛋白质建模分析。

Yeter, Burcu; Sezgin, Batın Ilgıt; Dilek, Yunus Emre; Kendir Demirkol, Yasemin; Selamioğlu, Arzu; Kırmızıbekmez, Heves; Kaymakçalan Çelebiler, Hande; Bayram Akçapınar, Günseli

Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels

拓展RAS病遗传图谱:将NF1纳入靶向检测的意义

Kendir-Demirkol, Yasemin; Yeter, Burcu; Eser, Metin; Yarar, Murat Hakki

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

Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency

重组 IFN-γ1b 治疗遗传性 IFN-γ 缺乏症患者

Jérémie Rosain, Ayca Kiykim #, Alexandre Michev #, Yasemin Kendir-Demirkol, Darawan Rinchai, Jessica N Peel, Hailun Li, Suheyla Ocak, Pinar Gokmirza Ozdemir, Tom Le Voyer, Quentin Philippot, Taushif Khan, Anna-Lena Neehus, Mélanie Migaud, Camille Soudée, Stéphanie Boisson-Dupuis, Nico Marr, Alessand

Atypical Mycobacterial Pneumonia in 2 Siblings with a Novel Hypomorphic NEMO/IKBKG Mutation

两名患有非典型分枝杆菌肺炎的兄弟姐妹携带一种新的低功能性NEMO/IKBKG突变

Meric, Zeynep; Aydemir, Sezin; Kilic Baskan, Azer; Gemici Karaaslan, Betul; Kendir Demirkol, Yasemin; Kilinc Sakalli, Ayse Ayzit; Kiykim, Ayca; Cokugras, Haluk

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene

拓展韦弗综合征的表型和基因型谱:EZH2基因的错义变异

Kendir-Demirkol, Yasemin; Yeter, Burcu; Jenny, Laura A

First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1

格里塞利综合征2型与神经纤维瘤病1型首次同时发生

Kendir-Demirkol, Yasemin; Yeter, Burcu; Yararbaş, Kanay

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

人类IRF1调控巨噬细胞对分枝杆菌的IFN-γ免疫反应

Jérémie Rosain ,Anna-Lena Neehus ,Jérémy Manry ,Rui Yang ,Jérémie Le Pen ,Wassim Daher ,Zhiyong Liu ,Yi-Hao Chan ,Natalia Tahuil ,Özden Türel ,Mathieu Bourgey ,Masato Ogishi ,Jean-Marc Doisne ,Helena M Izquierdo ,Takayoshi Shirasaki ,Tom Le Voyer ,Antoine Guérin ,Paul Bastard ,Marcela Moncada-Vélez ,Ji Eun Han ,Taushif Khan ,Franck Rapaport ,Seon-Hui Hong ,Andrew Cheung ,Kathrin Haake ,Barbara C Mindt ,Laura Pérez ,Quentin Philippot ,Danyel Lee ,Peng Zhang ,Darawan Rinchai ,Fatima Al Ali ,Manar Mahmoud Ahmad Ata ,Mahbuba Rahman ,Jessica N Peel ,Søren Heissel ,Henrik Molina ,Yasemin Kendir-Demirkol ,Rasheed Bailey ,Shuxiang Zhao ,Jonathan Bohlen ,Mathieu Mancini ,Yoann Seeleuthner ,Marie Roelens ,Lazaro Lorenzo ,Camille Soudée ,María Elvira Josefina Paz ,María Laura González ,Mohamed Jeljeli ,Jean Soulier ,Serge Romana ,Anne-Sophie L'Honneur ,Marie Materna ,Rubén Martínez-Barricarte ,Mathieu Pochon ,Carmen Oleaga-Quintas ,Alexandre Michev ,Mélanie Migaud ,Romain Lévy ,Marie-Alexandra Alyanakian ,Flore Rozenberg ,Carys A Croft ,Guillaume Vogt ,Jean-François Emile ,Laurent Kremer ,Cindy S Ma ,Jörg H Fritz ,Stanley M Lemon ,András N Spaan ,Nicolas Manel ,Laurent Abel ,Margaret R MacDonald ,Stéphanie Boisson-Dupuis ,Nico Marr ,Stuart G Tangye ,James P Di Santo ,Qian Zhang ,Shen-Ying Zhang ,Charles M Rice ,Vivien Béziat ,Nico Lachmann ,David Langlais ,Jean-Laurent Casanova ,Philippe Gros ,Jacinta Bustamante