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

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

NKX2-1相关疾病国际注册研究:临床、遗传和影像学视角

Nou-Fontanet, Laia; Ravelli, Claudia; Burglen, Lydie; Balsells Mejia, Sol; Valls-Villalba, Angel; Schiffels, Elies Roman; Innocenti, Alice; Villafuerte, Beatriz; Salazar-Villacorta, Ainara; Quiroz, Vicente; Sariego Jamardo, Andrea; Bonato, Giulia; Díaz-Gomez, Asun; Afenjar, Alexandra; Vilain, Catheline; da Silva Möller, Patricia Dumke; Garcia-Navas Nuñez, Deyanira; Krygier, Magdalena; Molnar, Maria Judit; Milanowski, Łukasz; Õunap, Katrin; Pauni, Micaela; Vega, Patricia; Borie, Raphael; Villamil-Osorio, Milena; Yilmaz, Sanem; Zádori, Dénes; Zawadzka, Marta; Barakat, Tahsin Stefan; Neuens, Sebastian; de Natera-de Benito, Daniel; Casas-Alba, Dídac; Soliani, Luca; de Gusmao, Claudio M; Garone, Giacomo; Specchio, Nicola; Carecchio, Miryam; Moreno, José C; Magrinelli, Francesca; Bhatia, Kailash P; Ebrahimi-Fakhari, Darius; Castiglioni, Claudia; Kurian, Manju Ann; Carvalho, João Nuno; Pons, Roser; Roze, Emmanuel; Doummar, Diane; Ortigoza-Escobar, Juan Darío

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

小核RNA基因RNU2-2的突变会导致严重的神经发育障碍,并伴有明显的癫痫症状。

Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Solà, Marta; Jensson, Brynjar O; Hales, Emma; Katrinecz, Andrea; Nieto Molina, Esther; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodríguez, Anna; Fernández Garoz, Bárbara; Foulds, Nicola; García-Navas Núñez, Deyanira; González Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G; Madrigal Bajo, Irene; Martinez-Monseny, Antonio F; McKee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodríguez-Revenga Bodi, Laia; Sariego Jamardo, Andrea; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Ángel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F; Barakat, Tahsin Stefan; O'Donoghue, Michael; Pérez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D; Turro, Ernest

The Second Life of Cobalt MOF: Alternating Magnetic Field- Assisted Electrocatalytic Oxygen Evolution Reaction in MOF-derived Nanoparticles

钴基MOF的二次生命:交变磁场辅助MOF衍生纳米颗粒的电催化析氧反应

Del Rio-Rodríguez, Jose Luis; Gutiérrez-Tarriño, Silvia; Márquez, Inmaculada; Gallo-Cordova, Álvaro; Molina, M Asunción; Martínez, Jordan Santiago; Calvente, Juan José; Cerezo-Navarrete, Christian; Beale, Andrew M; Morales, María Del Puerto; Olloqui-Sariego, Jose Luis; Oña-Burgos, Pascual

Phosphorylation of cytochrome c at tyrosine 48 finely regulates its binding to the histone chaperone SET/TAF-Iβ in the nucleus

细胞色素 c 在酪氨酸 48 位点的磷酸化精细调节其与细胞核中组蛋白伴侣 SET/TAF-Iβ 的结合

Joaquin Tamargo-Azpilicueta, Miguel Á Casado-Combreras, Rafael L Giner-Arroyo, Adrián Velázquez-Campoy, Inmaculada Márquez, José L Olloqui-Sariego, Miguel A De la Rosa, Irene Diaz-Moreno

Creation of an Inflammatory Bowel Disease Referral Pathway for Identifying Patients Who Would Benefit From Inflammatory Bowel Disease Specialist Consultation

建立炎症性肠病转诊途径,以识别可从炎症性肠病专科医生会诊中获益的患者

Scott, Frank I; Ehrlich, Orna; Wood, Dallas; Viator, Catherine; Rains, Carrie; DiMartino, Lisa; McArdle, Jill; Adams, Gabrielle; Barkoff, Lara; Caudle, Jennifer; Cheng, Jianfeng; Kinnucan, Jami; Persley, Kimberly; Sariego, Jennifer; Shah, Samir; Heller, Caren; Rubin, David T

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

扩展TRAPPC11相关肌营养不良症的表型谱:25名携带创始变异的罗姆人

Justel, Maria; Jou, Cristina; Sariego-Jamardo, Andrea; Juliá-Palacios, Natalia Alexandra; Ortez, Carlos; Poch, Maria Luisa; Hedrera-Fernandez, Antonio; Gomez-Martin, Hilario; Codina, Anna; Dominguez-Carral, Jana; Muxart, Jordi; Hernández-Laín, Aurelio; Vila-Bedmar, Sara; Zulaica, Miren; Cancho-Candela, Ramon; Castro, Margarita Del Carmen; de la Osa-Langreo, Alberto; Peña-Valenceja, Alfonso; Marcos-Vadillo, Elena; Prieto-Matos, Pablo; Pascual-Pascual, Samuel Ignacio; López de Munain, Adolfo; Camacho, Ana; Estevez-Arias, Berta; Musokhranova, Uliana; Olivella, Mireia; Oyarzábal, Alfonso; Jimenez-Mallebrera, Cecilia; Domínguez-González, Cristina; Nascimento, Andrés; García-Cazorla, Àngels; Natera-de Benito, Daniel

Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

探索与发育性脑病64相关的RHOBTB2变异谱:病例系列及文献综述

de Pedro Baena, Sonia; Sariego Jamardo, Andrea; Castro, Pedro; López González, Francisco Javier; Sánchez Carpintero, Rocío; Cerisola, Alfredo; Troncoso, Mónica; Witting, Scarlet; Barrios, Andrés; Fons, Carmen; López Pisón, Javier; Ortigoza-Escobar, Juan Darío

The interplay of race/ethnicity and education in fertility patterns

种族/民族和教育在生育模式中的相互作用

Zang, Emma; Sariego, Chloe; Krishnan, Anirudh

Metalloenzyme-Inspired Ce-MOF Catalyst for Oxidative Halogenation Reactions

受金属酶启发的Ce-MOF催化剂用于氧化卤化反应

Rojas-Buzo, Sergio; Concepción, Patricia; Olloqui-Sariego, José Luis; Moliner, Manuel; Corma, Avelino

Nanobody-Based Immunosensor Detection Enhanced by Photocatalytic-Electrochemical Redox Cycling

光催化-电化学氧化还原循环增强基于纳米抗体的免疫传感器检测

Stanislav Trashin, Francisco Morales-Yánez, Saranya Thiruvottriyur Shanmugam, Linda Paredis, Erik N Carrión, Idalia Sariego, Serge Muyldermans, Katja Polman, Sergiu M Gorun, Karolien De Wael