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

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

NDUFAF6 相关线粒体疾病的神经系统表现和基因型-表型相关性。

Torraco Alessandra, Alston Charlotte L, Barcia Giulia, Verrigni Daniela, Rizza Teresa, Di Nottia Michela, Altobelli Anastasia, Martinelli Diego, Diodato Daria, Efthymiou Stephanie, Kose Melis, Kriouile Yamna, Lim Albert Z, Morlino Silvia, Siri Barbara, Saadi Nebal Waill, Novelli Antonio, Houlden Henry, Dionisi-Vici Carlo, McFarland Robert, Rötig Agnès, Bertini Enrico, Taylor Robert W, Carrozzo Rosalba

Placing joint hypermobility in context: traits, disorders and syndromes

将关节过度活动置于更广阔的背景下进行探讨:特征、疾病和综合征

Morlino, Silvia; Castori, Marco

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

外显子捕获分析法可改善对 Stickler 综合征 2 型和耳脊椎肥大骨骺发育不良中 COL11A1 和 COL11A2 内含子变异的临床解读

Micale, Lucia; Morlino, Silvia; Schirizzi, Annalisa; Agolini, Emanuele; Nardella, Grazia; Fusco, Carmela; Castellana, Stefano; Guarnieri, Vito; Villa, Roberta; Bedeschi, Maria Francesca; Grammatico, Paola; Novelli, Antonio; Castori, Marco

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders.

对影响 FBN1 相关疾病中剪接的两种新型内含子变异进行表征

Fusco Carmela, Morlino Silvia, Micale Lucia, Ferraris Alessandro, Grammatico Paola, Castori Marco

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

一种新的MAP3K7剪接突变导致心脊椎腕面综合征,并具有遗传性结缔组织疾病的特征。

Morlino, Silvia; Castori, Marco; Dordoni, Chiara; Cinquina, Valeria; Santoro, Graziano; Grammatico, Paola; Venturini, Marina; Colombi, Marina; Ritelli, Marco

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation

一例因SF3B4基因新突变导致患有纳格尔综合征和先天性膈疝的22周胎儿

Castori, Marco; Bottillo, Irene; D'Angelantonio, Daniela; Morlino, Silvia; De Bernardo, Carmelilia; Scassellati Sforzolini, Giovanna; Silvestri, Evelina; Grammatico, Paola