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

Development and Validation of a Practical Tool for Assessing Acute Pain in the Pediatric Population With Down Syndrome (ANDREAS): A Study Protocol

开发和验证用于评估唐氏综合征患儿急性疼痛的实用工具(ANDREAS):一项研究方案

Latina, Roberto; Gambino, Rosaria; Matranga, Domenica; Giammarinaro, Maria Rita; Lacorossi, Laura; Maniscalco, Laura; Megna, Noemi; Varrassi, Giustino; Busè, Martina; Piccione, Maria

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

病例报告:一名患有出生后小头畸形综合征的患者,其MED23基因中存在致病变异的新型复合杂合性

Salzano, Emanuela; Niceta, Marcello; Pizzi, Simone; Radio, Francesca Clementina; Busè, Martina; Mercadante, Francesca; Barresi, Sabina; Ferrara, Arturo; Mancini, Cecilia; Tartaglia, Marco; Piccione, Maria

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene

旋转性头晕与努南综合征:SOS1基因致病性变异两例报道

Mercadante, Francesca; Piro, Ettore; Busè, Martina; Salzano, Emanuela; Ferrara, Arturo; Serra, Gregorio; Passarello, Cristina; Corsello, Giovanni; Piccione, Maria

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

12q21间质缺失:阵列比较基因组杂交技术检测到的7例新的综合征病例及文献综述

Recalcati, Maria Paola; Catusi, Ilaria; Garzo, Maria; Redaelli, Serena; Massimello, Marta; Maitz, Silvia Beatrice; Gentile, Mattia; Ponzi, Emanuela; Orsini, Paola; Zilio, Anna; Montaldi, Annamaria; Calò, Annapaola; Capra, Anna Paola; Briuglia, Silvana; La Rosa, Maria Angela; Grillo, Lucia; Romano, Corrado; Bianca, Sebastiano; Malacarne, Michela; Busè, Martina; Piccione, Maria; Larizza, Lidia

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

12q14.3微缺失(涉及HMGA2基因)导致类似Silver-Russell综合征的表型:病例报告及文献综述

Mercadante, Francesca; Busè, Martina; Salzano, Emanuela; Fragapane, Tiziana; Palazzo, Daniela; Malacarne, Michela; Piccione, Maria

Inhaled nitric oxide as a rescue therapy in a preterm neonate with severe pulmonary hypertension: a case report

吸入一氧化氮作为早产儿重度肺动脉高压的抢救疗法:病例报告

Busè, Martina; Graziano, Francesco; Lunetta, Fabio; Sulliotti, Giorgio; Duca, Vincenzo

Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?

1p36 缺失(包含 RERE 基因)伴 III 型食管闭锁的 IV 型喉气管食管裂:基因改变是否具有致病作用?

Pelizzo, Gloria; Puglisi, Aurora; Lapi, Maria; Piccione, Maria; Matina, Federico; Busè, Martina; Mura, Giovanni Battista; Re, Giuseppe; Calcaterra, Valeria

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series

扩展1q21.1相互缺失和重复的表型:病例系列

Busè, Martina; Cuttaia, Helenia C; Palazzo, Daniela; Mazara, Marcella V; Lauricella, Salvatrice A; Malacarne, Michela; Pierluigi, Mauro; Cavani, Simona; Piccione, Maria

Effectiveness evaluation of an integrated automatic thermomechanic massage system (SMATH® system) in non-specific sub-acute and chronic low back pain - a randomized double-blinded controlled trial, comparing SMATH therapy versus sham therapy: study protocol for a randomized controlled trial

评估集成式自动热机械按摩系统(SMATH®系统)治疗非特异性亚急性及慢性腰痛的有效性——一项随机双盲对照试验,比较SMATH疗法与假疗法:随机对照试验研究方案

Buselli, Paolo; Bosoni, Roberto; Busè, Gabriella; Fasoli, Paola; La Scala, Elide; Mazzolari, Rita; Zanetti, Federica; Messina, Sara