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

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

WDR44 WD40重复结构域的变异会损害纤毛发生起始,从而导致一系列纤毛病。

Andrea Accogli # ,Saurabh Shakya # ,Taewoo Yang # ,Christine Insinna ,Soo Yeon Kim ,David Bell ,Kirill R Butov ,Mariasavina Severino ,Marcello Niceta ,Marcello Scala ,Hyun Sik Lee ,Taekyeong Yoo ,Jimmy Stauffer ,Huijie Zhao ,Chiara Fiorillo ,Marina Pedemonte ,Maria C Diana ,Simona Baldassari ,Viktoria Zakharova ,Anna Shcherbina ,Yulia Rodina ,Christina Fagerberg ,Laura Sønderberg Roos ,Jolanta Wierzba ,Artur Dobosz ,Amanda Gerard ,Lorraine Potocki ,Jill A Rosenfeld ,Seema R Lalani ,Tiana M Scott ,Daryl Scott ,Mahshid S Azamian ,Raymond Louie ,Hannah W Moore ,Neena L Champaigne ,Grace Hollingsworth ,Annalaura Torella ,Vincenzo Nigro ,Rafal Ploski ,Vincenzo Salpietro ,Federico Zara ,Simone Pizzi ,Giovanni Chillemi ,Marzia Ognibene ,Erin Cooney ,Jenny Do ,Anders Linnemann ,Martin J Larsen ,Suzanne Specht ,Kylie J Walters ,Hee-Jung Choi ,Murim Choi ,Marco Tartaglia ,Phillippe Youkharibache ,Jong-Hee Chae ,Valeria Capra ,Sung-Gyoo Park ,Christopher J Westlake

A Rare Case of TP63-Associated Lymphopenia Revealed by Newborn Screening Using TREC

使用 TREC 进行新生儿筛查发现罕见 TP63 相关淋巴细胞减少症病例

Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva,

Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1

先前存在的 I 型干扰素自身抗体是 APS-1 患者出现危重 COVID-19 肺炎的原因

Paul Bastard, Elizaveta Orlova, Leila Sozaeva, Romain Lévy, Alyssa James, Monica M Schmitt, Sebastian Ochoa, Maria Kareva, Yulia Rodina, Adrian Gervais, Tom Le Voyer, Jérémie Rosain, Quentin Philippot, Anna-Lena Neehus, Elana Shaw, Mélanie Migaud, Lucy Bizien, Olov Ekwall, Stefan Berg, Guglielmo Bec

CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease

CARMIL2 缺乏症表现为极早发性炎症性肠病

Thomas Magg, Anna Shcherbina, Duran Arslan, Mukesh M Desai, Sarah Wall, Vanessa Mitsialis, Raffaele Conca, Ekrem Unal, Neslihan Karacabey, Anna Mukhina, Yulia Rodina, Prasad D Taur, David Illig, Benjamin Marquardt, Sebastian Hollizeck, Tim Jeske, Florian Gothe, Tilmann Schober, Meino Rohlfs, Sibylle