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

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

常染色体显性 STAT6 功能获得导致与淋巴瘤相关的严重特应性

Ekaterina Minskaia, Jesmeen Maimaris, Persephone Jenkins, Adriana S Albuquerque, Ying Hong, Despina Eleftheriou, Kimberly C Gilmour, Richard Grace, Fernando Moreira, Bodo Grimbacher; NIHR Bioresource-Rare Diseases Consortium; Emma C Morris, Siobhan O Burns

Evidence of previous SARS-CoV-2 infection in seronegative patients with long COVID

长期 COVID 血清阴性患者有既往 SARS-CoV-2 感染证据

Benjamin A Krishna, Eleanor Y Lim, Lenette Mactavous; NIHR BioResource Team; Paul A Lyons, Rainer Doffinger, John R Bradley, Kenneth G C Smith, John Sinclair, Nicholas J Matheson, Paul J Lehner, Mark R Wills, Nyaradzai Sithole

Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels

代谢组全基因组关联研究发现74个影响血浆代谢物水平的新基因组区域

Hysi, Pirro G; Mangino, Massimo; Christofidou, Paraskevi; Falchi, Mario; Karoly, Edward D; Nihr Bioresource Investigators; Mohney, Robert P; Valdes, Ana M; Spector, Tim D; Menni, Cristina

Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2

与 SDHA 和 PALB2 种系截短变异相关的家族性野生型胃肠道间质瘤

James Whitworth, Ruth T Casey, Philip S Smith, Olivier Giger, Jose Ezequiel Martin, Graeme Clark, Jaqueline Cook, Marlee S Fernando, Phillipe Taniere; NIHR BioResource; Eamonn R Maher

A coagulation defect arising from heterozygous premature termination of tissue factor

因组织因子杂合子过早终止而引起的凝血缺陷

Sol Schulman, Emale El-Darzi, Mary Hc Florido, Max Friesen, Glenn Merrill-Skoloff, Marisa A Brake, Calvin R Schuster, Lin Lin, Randal J Westrick, Chad A Cowan, Robert Flaumenhaft; NIHR BioResource; Willem H Ouwehand, Kathelijne Peerlinck, Kathleen Freson, Ernest Turro, Bruce Furie

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

WASF1 基因新生截断突变导致智力障碍和癫痫发作

Yoko Ito, Keren J Carss, Sofia T Duarte, Taila Hartley, Boris Keren, Manju A Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis-Juan, Hans van Bokhoven, Anthony van Essen, Conny van Ravenswaaij-Arts; NIHR BioResource; Care4Rare Canada Consortium; Kym M