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

False positive Herpes Simplex IgM serology in COVID-19 patients correlates with SARS-CoV-2 IgM/IgG seropositivity

COVID-19 患者单纯疱疹病毒 IgM 血清学假阳性与 SARS-CoV-2 IgM/IgG 血清阳性相关

Laura Vandervore, Eugénie Van Mieghem, Vicky Nowé, Sofie Schouwers, Charlotte Steger, Pascale Abrams, Jozef Van Schaeren, Anissa Meskal, Timon Vandamme

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

旋转蛋白细胞动力学反映出异质性临床表型和脑畸形

Vandervore, Laura V; Schot, Rachel; Kasteleijn, Esmee; Oegema, Renske; Stouffs, Katrien; Gheldof, Alexander; Grochowska, Martyna M; van der Sterre, Marianne L T; van Unen, Leontine M A; Wilke, Martina; Elfferich, Peter; van der Spek, Peter J; Heijsman, Daphne; Grandone, Anna; Demmers, Jeroen A A; Dekkers, Dick H W; Slotman, Johan A; Kremers, Gert-Jan; Schaaf, Gerben J; Masius, Roy G; van Essen, Anton J; Rump, Patrick; van Haeringen, Arie; Peeters, Els; Altunoglu, Umut; Kalayci, Tugba; Poot, Raymond A; Dobyns, William B; Bahi-Buisson, Nadia; Verheijen, Frans W; Jansen, Anna C; Mancini, Grazia M S

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

TMX2是细胞氧化还原状态的关键调节因子,其功能障碍会导致严重的大脑发育异常。

Laura V Vandervore ,Rachel Schot ,Chiara Milanese ,Daphne J Smits ,Esmee Kasteleijn ,Andrew E Fry ,Daniela T Pilz ,Stefanie Brock ,Esra Börklü-Yücel ,Marco Post ,Nadia Bahi-Buisson ,María José Sánchez-Soler ,Marjon van Slegtenhorst ,Boris Keren ,Alexandra Afenjar ,Stephanie A Coury ,Wen-Hann Tan ,Renske Oegema ,Linda S de Vries ,Katherine A Fawcett ,Peter G J Nikkels ,Aida Bertoli-Avella ,Amal Al Hashem ,Abdulmalik A Alwabel ,Kalthoum Tlili-Graiess ,Stephanie Efthymiou ,Faisal Zafar ,Nuzhat Rana ,Farah Bibi ,Henry Houlden ,Reza Maroofian ,Richard E Person ,Amy Crunk ,Juliann M Savatt ,Lisbeth Turner ,Mohammad Doosti ,Ehsan Ghayoor Karimiani ,Nebal Waill Saadi ,Javad Akhondian ,Maarten H Lequin ,Hülya Kayserili ,Peter J van der Spek ,Anna C Jansen ,Johan M Kros ,Robert M Verdijk ,Nataša Jovanov Milošević ,Maarten Fornerod ,Pier Giorgio Mastroberardino ,Grazia M S Mancini

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

SMPD4 缺失导致以小头畸形和先天性关节挛缩为特征的发育障碍

Pamela Magini, Daphne J Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H Lequin, Marjolein Dremmen, Marie Claire Y de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez-Herrera, Amal Alhashem, Ahmed

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

编码 GAR 结构域高度保守的锌结合残基的 MACF1 突变导致神经元迁移和轴突引导缺陷

William B Dobyns, Kimberly A Aldinger, Gisele E Ishak, Ghayda M Mirzaa, Andrew E Timms, Megan E Grout, Marjolein H G Dremmen, Rachel Schot, Laura Vandervore, Marjon A van Slegtenhorst, Martina Wilke, Esmee Kasteleijn, Arthur S Lee, Brenda J Barry, Katherine R Chao, Krzysztof Szczałuba, Joyce Kobori,

Expanding the clinical spectrum of biallelic ZNF335 variants

扩大双等位基因 ZNF335 变异体的临床谱

Stouffs, K; Stergachis, A B; Vanderhasselt, T; Dica, A; Janssens, S; Vandervore, L; Gheldof, A; Bodamer, O; Keymolen, K; Seneca, S; Liebaers, I; Jayaraman, D; Hill, H E; Partlow, J N; Walsh, C A; Jansen, A C