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

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

ATP6V1C1 和 ATP6V1B2 中起显性作用的变体通过改变溶酶体和/或自噬体功能引起多系统表型谱

Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo, Paolo Calligari, Agostina Pietrantoni, Andrea Ciolfi, Marco Ferilli, Cristina Calderan, Gerarda Cappuccio, Simone Martinelli, Elena Messina, Viviana Caputo, Ulrike Hüffmeier, Cy

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

阐明 HYAL2 缺陷的临床表现和分子基础

James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A Chioza, Lettie E Rawlins, Olivia K Wenger, Adam C Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natas

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

扩大马赞蒂综合征致病 SHOC2 变异的分子谱

Marialetizia Motta, Maja Solman, Adeline A Bonnard, Alma Kuechler, Francesca Pantaleoni, Manuela Priolo, Balasubramanian Chandramouli, Simona Coppola, Simone Pizzi, Erika Zara, Marco Ferilli, Hülya Kayserili, Roberta Onesimo, Chiara Leoni, Julia Brinkmann, Yoann Vial, Susanne B Kamphausen, Cécile Th

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

VPS4A 新发突变导致多系统疾病和神经发育异常

Catherine Rodger, Elisabetta Flex, Rachel J Allison, Alba Sanchis-Juan, Marcia A Hasenahuer, Serena Cecchetti, Courtney E French, James R Edgar, Giovanna Carpentieri, Andrea Ciolfi, Francesca Pantaleoni, Alessandro Bruselles; Genomics England Research Consortium; Roberta Onesimo, Giuseppe Zampino, F