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

HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndrome

HLH合并脊髓神经纤维瘤:一例DiGeorge综合征患者的病例报告

Tallone, Ramona; Micalizzi, Concetta; Faraci, Maura; De Marco, Patrizia; Capra, Valeria; Beccaria, Andrea; Livellara, Virginia; Arkhangelskaya, Elena; Ramaglia, Antonia; Ronchetto, Patrizia; Ognibene, Marzia; Bono, Maria; Muraca, Monica; Vellone, Valerio Gaetano; Rebuffi, Chiara; Marcenaro, Stefania; Pelanconi, Lisa; Haupt, Riccardo; Dufour, Carlo; Strati, Marina Francesca; Merlo, Silvia

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

LMX1B 单倍体不足,由 5'UTR 变异引起,是指甲髌骨综合征的病因

Cappato Serena, Divizia Maria Teresa, Menta Ludovica, Rosti Giulia, Puliti Aldamaria, Martinheira Da Silva Joana Soraia, Santamaria Giuseppe, Di Duca Marco, Ronchetto Patrizia, Faravelli Francesca, Zara Federico, Bocciardi Renata

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs

具有复杂表型和潜在复杂遗传基础(涉及非编码基因和双重拷贝数变异)的患者的神经发育障碍

Servetti, Martina; Pisciotta, Livia; Tassano, Elisa; Cerminara, Maria; Nobili, Lino; Boeri, Silvia; Rosti, Giulia; Lerone, Margherita; Divizia, Maria Teresa; Ronchetto, Patrizia; Puliti, Aldamaria

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

对一名患有环状染色体2的儿童进行临床放射学和分子特征分析,该儿童表现为生长发育迟缓、小头畸形、肾脏和脑部畸形。

Severino, Mariasavina; Accogli, Andrea; Gimelli, Giorgio; Rossi, Andrea; Kotzeva, Svetlana; Di Rocco, Maja; Ronchetto, Patrizia; Cuoco, Cristina; Tassano, Elisa

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

对一名患有新生间质性14q24.1q24.3缺失的患者的表型和基因特征进行分析

Tassano, Elisa; Accogli, Andrea; Panigada, Serena; Ronchetto, Patrizia; Cuoco, Cristina; Gimelli, Giorgio

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

对一位健康父亲及其两个患病子女的遗传性3p26.3末端缺失(仅包含CHL1基因)进行基于微阵列的分析,该缺失由一位正常父亲遗传给两个患病子女。

Cuoco, Cristina; Ronchetto, Patrizia; Gimelli, Stefania; Béna, Frédérique; Divizia, Maria Teresa; Lerone, Margherita; Mirabelli-Badenier, Marisol; Mascaretti, Monica; Gimelli, Giorgio