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

Expanded Newborn Screening in Italy: The First Report of Lombardy Region

意大利扩大新生儿筛查范围:伦巴第大区首份报告

Berardo, Clarissa; Vasco, Alessandra; Mauri, Alessia; Lucchi, Simona; Cappelletti, Laura; Saielli, Laura; Rizzetto, Manuela; Biganzoli, Davide; Montrasio, Cristina; Postorivo, Diana; Pratiffi, Elisa; Meta, Andrea; Carelli, Stephana; Amorosi, Alessandro; Paci, Sabrina; Cefalo, Graziella; Furlan, Francesca; Menni, Francesca; Gasperini, Serena; Crescitelli, Viola; Banderali, Giuseppe; Zuccotti, Gianvincenzo; Alberti, Luisella; Cereda, Cristina

Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31

更正:Berardo 等人,《意大利新生儿筛查扩展:伦巴第地区的首份报告》,《国际新生儿筛查杂志》,2025 年,11,31。

Berardo, Clarissa; Vasco, Alessandra; Mauri, Alessia; Lucchi, Simona; Cappelletti, Laura; Saielli, Laura; Rizzetto, Manuela; Biganzoli, Davide; Montrasio, Cristina; Postorivo, Diana; Donnorso, Michela Perrone; Pratiffi, Elisa; Meta, Andrea; Carelli, Stephana; Amorosi, Alessandro; Paci, Sabrina; Cefalo, Graziella; Furlan, Francesca; Menni, Francesca; Gasperini, Serena; Crescitelli, Viola; Banderali, Giuseppe; Zuccotti, Gianvincenzo; Alberti, Luisella; Cereda, Cristina

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation

线粒体乙酰乙酰辅酶A硫解酶缺乏症:新生儿筛查发现三例新病例,证实C4OH升高的重要性

Vasco, Alessandra; Berardo, Clarissa; Lucchi, Simona; Cappelletti, Laura; Tamburello, Giulio; Fazzone, Salvatore; Mauri, Alessia; Fiumani, Francesca; Postorivo, Diana; Alberti, Luisella; Perrone Donnorso, Michela; Gasperini, Serena; Furlan, Francesca; Fiori, Laura; Carelli, Stephana; Saielli, Laura Assunta; Montrasio, Cristina; Cereda, Cristina

Evaluating the effectiveness of crisis support spaces in Queensland, Australia: a mixed-methods study

评估澳大利亚昆士兰州危机支持空间的有效性:一项混合方法研究

Papinczak, Zoe E; Roovers, Hannah E; Patel, Mikesh; Postorivo, Danielle; McLellan, Meaghan E; Whiteford, Harvey A; Rutherford, Zoe H

Person-centred crisis support services as alternatives to emergency departments: a systematic scoping review

以人为本的危机支持服务作为急诊部门的替代方案:一项系统性范围界定综述

Postorivo, Danielle; Parker, Stephen; Whiteford, Harvey; Papinczak, Zoe; Rutherford, Zoe

Identification of i(X)(p10) as the sole molecular abnormality in atypical chronic myeloid leukemia evolved into acute myeloid leukemia

在非典型慢性粒细胞白血病中,i(X)(p10)是唯一分子异常的鉴定,最终发展为急性粒细胞白血病。

Gurnari, Carmelo; Panetta, Paola; Fabiani, Emiliano; Nardone, Anna Maria; Postorivo, Diana; Falconi, Giulia; Franceschini, Luca; Rizzo, Manuela; Rapisarda, Vito Mario; De Bellis, Eleonora; Lo-Coco, Francesco; Voso, Maria Teresa

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

9q33.1 处的 ASTM2/TRIM32 基因座的破坏是男性患自闭症谱系障碍、注意力缺陷多动障碍和其他神经发育表型的风险因素。

Lionel, Anath C; Tammimies, Kristiina; Vaags, Andrea K; Rosenfeld, Jill A; Ahn, Joo Wook; Merico, Daniele; Noor, Abdul; Runke, Cassandra K; Pillalamarri, Vamsee K; Carter, Melissa T; Gazzellone, Matthew J; Thiruvahindrapuram, Bhooma; Fagerberg, Christina; Laulund, Lone W; Pellecchia, Giovanna; Lamoureux, Sylvia; Deshpande, Charu; Clayton-Smith, Jill; White, Ann C; Leather, Susan; Trounce, John; Melanie Bedford, H; Hatchwell, Eli; Eis, Peggy S; Yuen, Ryan K C; Walker, Susan; Uddin, Mohammed; Geraghty, Michael T; Nikkel, Sarah M; Tomiak, Eva M; Fernandez, Bridget A; Soreni, Noam; Crosbie, Jennifer; Arnold, Paul D; Schachar, Russell J; Roberts, Wendy; Paterson, Andrew D; So, Joyce; Szatmari, Peter; Chrysler, Christina; Woodbury-Smith, Marc; Brian Lowry, R; Zwaigenbaum, Lonnie; Mandyam, Divya; Wei, John; Macdonald, Jeffrey R; Howe, Jennifer L; Nalpathamkalam, Thomas; Wang, Zhuozhi; Tolson, Daniel; Cobb, David S; Wilks, Timothy M; Sorensen, Mark J; Bader, Patricia I; An, Yu; Wu, Bai-Lin; Musumeci, Sebastiano Antonino; Romano, Corrado; Postorivo, Diana; Nardone, Anna M; Monica, Matteo Della; Scarano, Gioacchino; Zoccante, Leonardo; Novara, Francesca; Zuffardi, Orsetta; Ciccone, Roberto; Antona, Vincenzo; Carella, Massimo; Zelante, Leopoldo; Cavalli, Pietro; Poggiani, Carlo; Cavallari, Ugo; Argiropoulos, Bob; Chernos, Judy; Brasch-Andersen, Charlotte; Speevak, Marsha; Fichera, Marco; Ogilvie, Caroline Mackie; Shen, Yiping; Hodge, Jennelle C; Talkowski, Michael E; Stavropoulos, Dimitri J; Marshall, Christian R; Scherer, Stephen W

De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

肝血管内皮瘤患者中发现涉及RB1基因的13q13.3-21.31区域新生缺失。

Rapini, Novella; Lidano, Roberta; Pietrosanti, Silvia; Vitiello, Giuseppina; Grimaldi, Chiara; Postorivo, Diana; Nardone, Anna Maria; Del Bufalo, Francesca; Brancati, Francesco; Manca Bitti, Maria Luisa

Contrast-enhanced ultrasonography in peripheral lung consolidations: What's its actual role?

对比增强超声在周围型肺实变中的实际作用是什么?

Sartori, Sergio; Postorivo, Simona; Vece, Francesca Di; Ermili, Francesca; Tassinari, Davide; Tombesi, Paola

An introduction to population genetics

群体遗传学导论

Catusi, Ilaria; Recalcati, Maria Paola; Bestetti, Ilaria; Garzo, Maria; Valtorta, Chiara; Alfonsi, Melissa; Alghisi, Alberta; Cappellani, Stefania; Casalone, Rosario; Caselli, Rossella; Ceccarini, Caterina; Ceglia, Carlo; Ciaschini, Anna Maria; Coviello, Domenico; Crosti, Francesca; D'Aprile, Annamaria; Fabretto, Antonella; Genesio, Rita; Giagnacovo, Marzia; Granata, Paola; Longo, Ilaria; Malacarne, Michela; Marseglia, Giuseppina; Montaldi, Annamaria; Nardone, Anna Maria; Palka, Chiara; Pecile, Vanna; Pessina, Chiara; Postorivo, Diana; Redaelli, Serena; Renieri, Alessandra; Rigon, Chiara; Tiberi, Fabiola; Tonelli, Mariella; Villa, Nicoletta; Zilio, Anna; Zuccarello, Daniela; Novelli, Antonio; Larizza, Lidia; Giardino, Daniela; Crow, James F