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

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile

一种新型 POR G88S 突变导致严重的 PORD,并建立了一个关键的药物基因组学风险谱。

Rojas Velazquez, Maria Natalia; Lopez Dacal, Jimena; Jørgensen, Flemming Steen; Sanguineti, Nora; Sharma, Katyayani; Marino, Roxana; Pérez Garrido, Natalia; Vaiani, Elisa; Ramírez, Pablo; Scaglia, Paula; Izquierdo, Agustín; Sansó, Gabriela; Ropelato, María Gabriela; Bergadá, Ignacio; Rey, Rodolfo A; Grinspon, Romina P; Pandey, Amit V

46,XY DSD with Partial Gonadal Dysgenesis and Growth Failure in a Patient with 3q27.1 Microdeletion: Candidate Gene Curation After Exhaustive Literature Review

46,XY 性发育异常伴部分性腺发育不全和生长发育障碍,患者存在 3q27.1 微缺失:基于详尽文献综述的候选基因筛选

Correa Brito, Lourdes; Suco, Sofía; Casali, Bárbara; Villegas, Florencia; Scaglia, Paula; Izquierdo, Agustín; Lopez Dacal, Jimena; Podestá, Miguel Jr; Medin, Martín; Grinspon, Romina P; Ropelato, María Gabriela; Rey, Rodolfo A

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements

MELAS 和卒中样发作的诊断标准和管理:基于共识的声明

Mancuso, Michelangelo; Bellusci, Marcello; Carelli, Valerio; de Coo, Irenaeus; Diodato, Daria; Distelmaier, Felix; Hikmat, Omar; Hirano, Michio; Horvath, Rita; Karaa, Amel; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; La Morgia, Chiara; Lopriore, Piervito; Martikainen, Mika Henrik; McFarland, Robert; Musumeci, Olimpia; Pitceathly, Robert D S; Primiano, Guido; Rahman, Shamima; Scaglia, Fernando; Schaefer, Andrew; Schiff, Manuel; Semmler, Luisa; Lamperti, Costanza; Servidei, Serenella

Modelling Nitrogen Excretion in Dairy Cows: An Application to Farms in the Po Valley (Italy)

奶牛氮排泄建模:以意大利波河谷农场为例

Caprarulo, Valentina; Scaglia, Elena; Simonetto, Anna; Ferronato, Giulia; Sergi, Valeria; Giagnoni, Laura; Gilioli, Gianni

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey

线粒体疾病患者死亡相关因素的特征分析:一项多中心横断面调查

Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; McFarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap

Transforming Tomato Industry By-Products into Antifungal Peptides Through Enzymatic Hydrolysis.

利用酶水解法将番茄产业副产品转化为抗真菌肽

Emide Davide, Periccioli Lorenzo, Pasquali Matias, Scaglia Barbara, De Benedetti Stefano, Scarafoni Alessio, Magni Chiara

Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review

轻度孤立性高促甲状腺激素血症的变异谱:初步队列研究和系统评价

Ricci, Valentina; Masnata, María E; Villanueva Gonzalez, María D; Enacán, Rosa E; Izquierdo, Agustín; Adrover, Ezequiela; Esnaola Azcoiti, María; Sansó, Gabriela; Scaglia, Paula A; Rivolta, Carina M; Targovnik, Héctor M; Rey, Rodolfo A; Ropelato, María G; Chiesa, Ana E; Nicola, Juan P; Tellechea, Mariana L

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes

PMM2-CDG 中的目标达成情况:一种衡量有意义临床结果的新方法

Verberkmoes, Sanne; Mazza, Gina L; Edmondson, Andrew C; Scaglia, Fernando; Horikoshi, Seishu; Kuschel, Bryce; Janssen, Mirian C H; Mousa, Jehan; Larson, Austin; Shah, Rameen; McDonald, Georgia; Sarafoglou, Kyriaki; Berry, Gerard; Kozicz, Tamas; Lam, Christina; Morava, Eva

Causes of mortality in the congenital disorders of glycosylation

先天性糖基化障碍的死亡原因

Alharbi, Hana; Horikoshi, Seishu; Jenkins, Sabrina Malone; Scaglia, Fernando; Lam, Christina; Morava, Eva; Larson, Austin; Edmondson, Andrew C

Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives

MELAS 的体征、症状和健康相关生活质量:从患者和临床医生的角度衡量重要因素

Medrano, Paolo; Banderas, Benjamin; Brimmer, Marisa; Settel, Lily; Berger, Sari; Shields, Alan; Goldstein, Amy; Karaa, Amel; Larson, Austin; Parikh, Sumit; Scaglia, Fernando; Harrington, Karra Danyelle; Edgar, Chris James; Ventola, Pamela; Webster, Matthew; Chickering, Jennifer; Gwaltney, Chad; Wilson, Phebe; Glasser, Chad