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

Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability

试点应用解释性外部质量保证模式进行儿童综合征和智力障碍的基因组检测

Lundie, Ben; Chai, Sze Yee; Byrne, Alicia B; Azmanov, Dimitar; Christodoulou, John; Haas, Matilda A; Kassahn, Karin S; Lunke, Sebastian; Stott, Ami; Thompson, Bryony A; Badrick, Tony; Bennetts, Bruce

A feasibility open-label clinical trial utilizing second-generation artificial intelligence based on the constrained-disorder principle in patients with Parkinson's disease

一项利用基于约束障碍原理的第二代人工智能治疗帕金森病患者的可行性开放标签临床试验

Lehmann, Hillel; Azmanov, Henny; Hershkovitz, Yoav; Hurvitz, Noa; Agus, Samuel; Berg, Marc; Arkadir, David; Ilan, Yaron

What is new in pleural infections?

胸膜感染领域有哪些新进展?

Kenig, Ariel; Azmanov, Henny; Alsharif, Nuha; Idais, Islam; Cytter Kuint, Ruth; Darawshy, Fares; Kuint, Rottem

Fire: argon plasma coagulation, diathermy and laser

火灾:氩等离子体凝固术、透热疗法和激光疗法

Azmanov, Henny; Darawshy, Fares

Using chronobiology-based second-generation artificial intelligence digital system for overcoming antimicrobial drug resistance in chronic infections

利用基于时间生物学的第二代人工智能数字系统克服慢性感染中的抗菌药物耐药性

Kolben, Yotam; Azmanov, Henny; Gelman, Ram; Dror, Danna; Ilan, Yaron

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

RNPC3基因的致病性变异与垂体功能减退和原发性卵巢功能不全有关。

Akin, Leyla; Rizzoti, Karine; Gregory, Louise C; Corredor, Beatriz; Le Quesne Stabej, Polona; Williams, Hywel; Buonocore, Federica; Mouilleron, Stephane; Capra, Valeria; McGlacken-Byrne, Sinead M; Martos-Moreno, Gabriel Á; Azmanov, Dimitar N; Kendirci, Mustafa; Kurtoglu, Selim; Suntharalingham, Jenifer P; Galichet, Christophe; Gustincich, Stefano; Tasic, Velibor; Achermann, John C; Accogli, Andrea; Filipovska, Aleksandra; Tuilpakov, Anatoly; Maghnie, Mohamad; Gucev, Zoran; Gonen, Zeynep Burcin; Pérez-Jurado, Luis A; Robinson, Iain; Lovell-Badge, Robin; Argente, Jesús; Dattani, Mehul T

Establishing a second-generation artificial intelligence-based system for improving diagnosis, treatment, and monitoring of patients with rare diseases

建立第二代基于人工智能的系统,以改善罕见病患者的诊断、治疗和监测。

Hurvitz, Noa; Azmanov, Henny; Kesler, Asa; Ilan, Yaron

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

THOC2 mRNA 核输出因子变异导致临床表现不断扩展

Raman Kumar ,Elizabeth Palmer ,Alison E Gardner ,Renee Carroll ,Siddharth Banka ,Ola Abdelhadi ,Dian Donnai ,Ype Elgersma ,Cynthia J Curry ,Alice Gardham ,Mohnish Suri ,Rishikesh Malla ,Lauren Ilana Brady ,Mark Tarnopolsky ,Dimitar N Azmanov ,Vanessa Atkinson ,Michael Black ,Gareth Baynam ,Lauren Dreyer ,Robin Z Hayeems ,Christian R Marshall ,Gregory Costain ,Marja W Wessels ,Julia Baptista ,James Drummond ,Melanie Leffler ,Michael Field ,Jozef Gecz

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

勘误:作者更正:影响基因表达的致病性拷贝数变异会导致脑瘫患者的基因组负担。

Corbett, Mark A; van Eyk, Clare L; Webber, Dani L; Bent, Stephen J; Newman, Morgan; Harper, Kelly; Berry, Jesia G; Azmanov, Dimitar N; Woodward, Karen J; Gardner, Alison E; Slee, Jennie; Pérez-Jurado, Luís A; MacLennan, Alastair H; Gecz, Jozef

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy

影响基因表达的致病性拷贝数变异会导致脑瘫患者的基因组负担加重。

Corbett, Mark A; van Eyk, Clare L; Webber, Dani L; Bent, Stephen J; Newman, Morgan; Harper, Kelly; Berry, Jesia G; Azmanov, Dimitar N; Woodward, Karen J; Gardner, Alison E; Slee, Jennie; Pérez-Jurado, Luís A; MacLennan, Alastair H; Gecz, Jozef