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

Bernard Lown (1921-2021)

伯纳德·洛恩(1921-2021)

DeSilva, Regis A

Population Pharmacokinetic Analysis to Assist Dose Selection of the L-Ornithine Salt of Phenylacetic Acid

群体药代动力学分析辅助苯乙酸L-鸟氨酸盐的剂量选择

Wang, Xiaofeng; Vilchez, Regis A

Pregnancy in Patients With Hereditary Angioedema and Normal C1 Inhibitor

遗传性血管性水肿且C1抑制剂正常的患者妊娠

Gabriel, Natalia; Marcelino, Fernanda; Ferriani, Mariana P L; Arruda, L Karla; Campos, Regis A; Gonçalves, Rozana F; Chong-Neto, Herberto; Rosario Filho, Nelson; Valle, Solange O R; Pesquero, Joao B; Grumach, Anete S

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

遗传性GATA2缺陷通过单倍体不足表现为显性遗传,并表现出不完全临床外显率

Carmen Oleaga-Quintas ,Edgar Borges de Oliveira-Júnior # ,Jérémie Rosain # ,Franck Rapaport # ,Caroline Deswarte # ,Antoine Guérin # ,Sairaj Munavar Sajjath # ,Yu Jerry Zhou # ,Stéphane Marot # ,Claire Lozano # ,Lidia Branco ,Nuria Fernández-Hidalgo ,Dukhee Betty Lew ,Anne-Sophie Brunel ,Caroline Thomas ,Elise Launay ,Andrés Augusto Arias ,Alexis Cuffel ,Vanesa Cunill Monjo ,Anna-Lena Neehus ,Laura Marques ,Manon Roynard ,Marcela Moncada-Vélez ,Bengü Gerçeker ,Roger Colobran ,Marie-Gabrielle Vigué ,Gabriela Lopez-Herrera ,Laura Berron-Ruiz ,Nora Hilda Segura Méndez ,Patricia O'Farrill Romanillos ,Tom Le Voyer ,Anne Puel ,Christine Bellanné-Chantelot ,Kacy A Ramirez ,Lazaro Lorenzo-Diaz ,Noé Ramirez Alejo ,Rebeca Pérez de Diego ,Antonio Condino-Neto ,Fethi Mellouli ,Carlos Rodriguez-Gallego ,Torsten Witte ,José Franco Restrepo ,Mariana Jobim ,Stéphanie Boisson-Dupuis ,Eric Jeziorski ,Claire Fieschi ,Guillaume Vogt ,Jean Donadieu ,Marlène Pasquet ,Julia Vasconcelos ,Fatma Omur Ardeniz ,Mónica Martínez-Gallo ,Regis A Campos ,Luiz Fernando Jobim ,Rubén Martínez-Barricarte ,Kang Liu ,Aurélie Cobat # ,Laurent Abel # ,Jean-Laurent Casanova # ,Jacinta Bustamante

Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis

巴西遗传性血管性水肿管理指南 - 2017 年更新 第一部分:定义、分类和诊断

Giavina-Bianchi, Pedro; Arruda, Luisa Karla; Aun, Marcelo V; Campos, Regis A; Chong-Neto, Herberto J; Constantino-Silva, Rosemeire N; Fernandes, Fátima R; Ferraro, Maria F; Ferriani, Mariana P L; França, Alfeu T; Fusaro, Gustavo; Garcia, Juliana F B; Komninakis, Shirley; Maia, Luana S M; Mansour, Eli; Moreno, Adriana S; Motta, Antonio A; Pesquero, João B; Portilho, Nathalia; Rosário, Nelson A; Serpa, Faradiba S; Solé, Dirceu; Takejima, Priscila; Toledo, Eliana; Valle, Solange OR; Veronez, Camila L; Grumach, Anete S

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

多位点基因组变异导致的疾病表型解析

Posey, Jennifer E; Harel, Tamar; Liu, Pengfei; Rosenfeld, Jill A; James, Regis A; Coban Akdemir, Zeynep H; Walkiewicz, Magdalena; Bi, Weimin; Xiao, Rui; Ding, Yan; Xia, Fan; Beaudet, Arthur L; Muzny, Donna M; Gibbs, Richard A; Boerwinkle, Eric; Eng, Christine M; Sutton, V Reid; Shaw, Chad A; Plon, Sharon E; Yang, Yaping; Lupski, James R

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics

在全基因组诊断中,临床变异优先级排序和疾病基因发现的可视化和策展方法

James, Regis A; Campbell, Ian M; Chen, Edward S; Boone, Philip M; Rao, Mitchell A; Bainbridge, Matthew N; Lupski, James R; Yang, Yaping; Eng, Christine M; Posey, Jennifer E; Shaw, Chad A

Molecular diagnostic experience of whole-exome sequencing in adult patients

成人患者全外显子组测序的分子诊断经验

Posey, Jennifer E; Rosenfeld, Jill A; James, Regis A; Bainbridge, Matthew; Niu, Zhiyv; Wang, Xia; Dhar, Shweta; Wiszniewski, Wojciech; Akdemir, Zeynep H C; Gambin, Tomasz; Xia, Fan; Person, Richard E; Walkiewicz, Magdalena; Shaw, Chad A; Sutton, V Reid; Beaudet, Arthur L; Muzny, Donna; Eng, Christine M; Yang, Yaping; Gibbs, Richard A; Lupski, James R; Boerwinkle, Eric; Plon, Sharon E

Randomized trial of interferon- and ribavirin-free ombitasvir/paritaprevir/ritonavir in treatment-experienced hepatitis C virus-infected patients

一项针对既往接受过治疗的丙型肝炎病毒感染患者的随机试验,研究不含干扰素和利巴韦林的奥比他韦/帕瑞他韦/利托那韦方案的疗效

Chayama, Kazuaki; Notsumata, Kazuo; Kurosaki, Masayuki; Sato, Ken; Rodrigues, Lino Jr; Setze, Carolyn; Badri, Prajakta; Pilot-Matias, Tami; Vilchez, Regis A; Kumada, Hiromitsu

Randomized phase 3 trial of ombitasvir/paritaprevir/ritonavir for hepatitis C virus genotype 1b-infected Japanese patients with or without cirrhosis

一项针对感染丙型肝炎病毒基因1b型的日本患者(伴或不伴肝硬化)的随机3期临床试验,评估了ombitasvir/paritaprevir/ritonavir联合用药的疗效。

Kumada, Hiromitsu; Chayama, Kazuaki; Rodrigues, Lino Jr; Suzuki, Fumitaka; Ikeda, Kenji; Toyoda, Hidenori; Sato, Ken; Karino, Yoshiyasu; Matsuzaki, Yasushi; Kioka, Kiyohide; Setze, Carolyn; Pilot-Matias, Tami; Patwardhan, Meenal; Vilchez, Regis A; Burroughs, Margaret; Redman, Rebecca