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

Oral PrEP use among pregnant or parenting young women in South Africa: evidence from a large community-based implementation study

南非怀孕或育儿年轻女性口服PrEP的使用情况:一项大型社区实施研究的证据

Chen-Charles, Jenny; Davey, Dvora Joseph; Rousseau, Elzette; Little, Francesca; Toska, Elona; Mathola, Ntombovuyo; Macdonald, Pippa; Vanto, Onesimo; Wallace, Melissa; Bekker, Linda-Gail

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

DDX17基因的单等位基因新生突变会导致神经发育障碍

Seaby, Eleanor G; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D'Arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco L; Koboldt, Daniel C; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan M; Bruel, Ange-Line; Tran-Mau-Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril F; Ennis, Sarah

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants

拓展ReNU综合征的突变谱:对5'茎环变异的深入了解

Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco

Food Waste to Wellness: A Grape Pomace Blend in Gastric Cancer Prevention

变废为宝:葡萄渣混合物在预防胃癌中的作用

Micucci, Matteo; Battistelli, Michela; Burattini, Sabrina; Mari, Michele; Retini, Michele; Osman, Riham; Versari, Ilaria; Stella, Anna Bartoletti; Gianfanti, Federico; Udodinma, Jude Okeke; Onesimo, Francesco; Riela, Serena; Canale, Matteo; Piccionello, Antonio Palumbo; Faenza, Irene; Salucci, Sara

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences

将沃索利肽疗法与肢体手术相结合治疗软骨发育不全患儿:真实案例

Allegri, Anna Elsa Maria; Bedeschi, Maria Francesca; Bocchi, Maria Beatrice; Camurri, Valentina; Gonfiantini, Michaela Veronika; Leoni, Chiara; Mariani, Milena; Palmacci, Osvaldo; Porro, Matteo; Riganti, Simone; Tedesco, Caterina; Rinaldi, Berardo; Scarano, Emanuela; Schiavariello, Concetta; Selicorni, Angelo; Stagi, Stefano; Verdoni, Fabio; Zampino, Giuseppe; Maghnie, Mohamad; Onesimo, Roberta

Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population

遗传性出血性毛细血管扩张症的家族表型特征:意大利儿科人群的基因型-表型相关性

Giorgio, Valentina; Di Foggia, Chiara; Quatrale, Giovanna; Margiotta, Gaia; Stella, Giuseppe; Proli, Francesco; Leoni, Chiara; Onesimo, Roberta; Passali, Giulio Cesare; Contegiacomo, Andrea; Zampino, Giuseppe; Cordisco, Emanuela Lucci; Sonnini, Elena; Gasbarrini, Antonio; Gaetani, Eleonora

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies

HNRNPC中的Arg99Gln替换与一种独特的临床表型相关,其特征为面部畸形以及眼部和耳蜗异常。

Chiriatti, Luigi; Priolo, Manuela; Onesimo, Roberta; Carvetta, Mattia; Leoni, Chiara; Bruselles, Alessandro; Radio, Francesca Clementina; Cappelletti, Camilla; Ferilli, Marco; Ricci, Daniela; Niceta, Marcello; Cordeddu, Viviana; Ciolfi, Andrea; Mancini, Cecilia; Zampino, Giuseppe; Tartaglia, Marco

Psychosocial function moderates the link between sensory function and cognitive performance in individuals with mild cognitive impairment and Alzheimer's disease

心理社会功能调节轻度认知障碍和阿尔茨海默病患者的感觉功能与认知表现之间的联系。

Onesimo, Roberta; Ricci, Daniela; Agazzi, Cristiana; Leone, Simona; Petrianni, Maria; Orazi, Lorenzo; Amore, Filippo; Salerni, Annabella; Leoni, Chiara; Chieffo, Daniela; Tartaglia, Marco; Mercuri, Eugenio; Zampino, Giuseppe; Rehan, Sana; Mehrabi, Fereshteh; Mick, Paul; Phillips, Natalie A

Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series

I型脊髓性肌萎缩症患儿急性呼吸窘迫综合征:一项为期12年的病例系列研究

Piastra, M; Zito, G; Orr, A M; Picconi, E; Ferrari, V; Pezza, L; Marzano, L; Morena, T C; De Rosa, G; Onesimo, R; Fedele, M C; Tempera, A; Genovese, O; Racca, F; Varone, A; Spinazzola, G; De Luca, D; De Sanctis, R; Pane, M; Mercuri, E; Conti, G

Application of the neonatal 'floppy module' to older infants: can it be used for differential diagnosis?

将新生儿“软体模块”应用于较大婴儿:能否用于鉴别诊断?

Cutrona, Costanza; Sbarbati, Martina; Malaspina, Martina; Velli, Chiara; Sini, Francesca; Onesimo, Roberta; Coratti, Giorgia; Romeo, Domenico M; Pane, Marika; Mercuri, Eugenio