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

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer

1型神经纤维瘤病相关乳腺癌的亚型分布、临床表现和分子谱

Di Giosaffatte, Niccolò; Daniele, Paola; Petrizzelli, Francesco; Iacovino, Chiara; Canciani, Chiara; Garau, Maria Luisa; Santoro, Claudia; Trevisan, Valentina; Panfili, Arianna; Cavone, Stefania; Guida, Valentina; D'Asdia, Maria Cecilia; Bernardini, Laura; Majore, Silvia; Ferraris, Alessandro; Valiante, Michele; Gensini, Francesca; Radio, Francesca Clementina; Tortora, Giada; Cassina, Matteo; Miele, Giuseppina; Priolo, Manuela; Sirchia, Fabio; Piccinno, Ludovica; Flex, Elisabetta; Zampino, Giuseppe; Genuardi, Maurizio; Nigro, Vincenzo; Salviati, Leonardo; Papi, Laura; Grammatico, Paola; Leoni, Chiara; Piluso, Giulio; Giustini, Sandra; Mazza, Tommaso; Upadhyaya, Meena; Tartaglia, Marco; Trevisson, Eva; De Luca, Alessandro

Associations Between Human Milk Oligosaccharides and Maternal Nutrition: Latvian Study

拉脱维亚研究:母乳低聚糖与孕妇营养之间的关联

Aumeistere, Līva; Majore, Kristīne; Keke, Anete; Driksna, Annamarija; Aleksejeva, Svetlana; Ciprovica, Inga

An inherited TBX3 alteration in a prenatal case of ulnar-mammary syndrome: Clinical assessment and functional characterization in Drosophila melanogaster

一例产前尺骨-乳腺综合征病例中遗传性TBX3改变:果蝇的临床评估和功能表征

Bottillo, Irene; D'Alessandro, Andrea; Ciccone, Maria Pia; Cestra, Gianluca; Di Giacomo, Gianluca; Silvestri, Evelina; Castori, Marco; Brancati, Francesco; Lenzi, Andrea; Paiardini, Alessandro; Majore, Silvia; Cenci, Giovanni; Grammatico, Paola

A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1

一种与STAB1基因双等位致病变异相关的遗传性高铁蛋白血症

Monfrini, Edoardo; Pelucchi, Sara; Hollmén, Maija; Viitala, Miro; Mariani, Raffaella; Bertola, Francesca; Majore, Silvia; Di Fonzo, Alessio; Piperno, Alberto

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

新发 PHF5A 变异与颅面畸形、发育迟缓和尿道下裂有关

Frederike L Harms, Alexander J M Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Christian Casar, Christian Müller, Jikke-Mien F Niermeijer, Jan Fischer, Arne Jahn, Christoph Hübner, Silvia Majore, Emanuele Agolini, Antonio Novelli, Jasper van der Smagt, Robert Ernst, Ellen van Binsbergen, G

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

两例互不相关的双等位基因 CHEK2 变异病例:一种具有先天性染色体不稳定性的新疾病?

Bottillo, Irene; Savino, Emanuele; Majore, Silvia; Mulargia, Claudia; Valiante, Michele; Ferraris, Alessandro; Rossi, Valentina; Svegliati, Francesca; Ciccone, Maria Pia; Brusco, Francesca; Grammatico, Barbara; Di Giacomo, Gianluca; Bargiacchi, Simone; D'Angelantonio, Daniela; Grammatico, Paola

Bioconversion of Lactose into Glucose-Galactose Syrup by Two-Stage Enzymatic Hydrolysis

通过两阶段酶水解将乳糖生物转化为葡萄糖-半乳糖糖浆

Kristine Majore, Inga Ciprovica

The Development of Mindful-Based Dance Movement Therapy Intervention for Chronic Pain: A Pilot Study With Chronic Headache Patients

基于正念的舞蹈动作疗法干预在慢性疼痛治疗中的应用:一项针对慢性头痛患者的试点研究

Majore-Dusele, Indra; Karkou, Vicky; Millere, Inga

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes

意大利中部单中心回顾性研究:黑色素瘤易感基因检测患者

De Simone, Paola; Bottillo, Irene; Valiante, Michele; Iorio, Alessandra; De Bernardo, Carmelilia; Majore, Silvia; D'Angelantonio, Daniela; Valentini, Tiziana; Sperduti, Isabella; Piemonte, Paolo; Eibenschutz, Laura; Ferrari, Angela; Carbone, Anna; Buccini, Pierluigi; Paiardini, Alessandro; Silipo, Vitaliano; Frascione, Pasquale; Grammatico, Paola

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

基于24个新发现的家族和文献数据的Loeys-Dietz综合征基因型分类

Camerota, Letizia; Ritelli, Marco; Wischmeijer, Anita; Majore, Silvia; Cinquina, Valeria; Fortugno, Paola; Monetta, Rosanna; Gigante, Laura; Marfan Syndrome Study Group Tor Vergata University Hospital; Sangiuolo, Federica Carla; Novelli, Giuseppe; Colombi, Marina; Brancati, Francesco