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A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

Autor: Marinella, Gemma¹ (AUTHOR), Astrea, Guja¹ (AUTHOR) guja.astrea@fsm.unipi.it, Buchignani, Bianca^1,2 (AUTHOR), Cassandrini, Denise¹ (AUTHOR), Doccini, Stefano¹ (AUTHOR), Filosto, Massimiliano^3,4 (AUTHOR), Galatolo, Daniele¹ (AUTHOR), Gallone, Salvatore⁵ (AUTHOR), Giannini, Fabio⁶ (AUTHOR), Lopergolo, Diego^1,6 (AUTHOR), Maioli, Maria Antonietta⁷ (AUTHOR), Magri, Francesca⁸ (AUTHOR), Malandrini, Alessandro⁶ (AUTHOR), Mandich, Paola⁹ (AUTHOR), Mari, Francesco¹⁰ (AUTHOR), Massa, Roberto¹¹ (AUTHOR), Mata, Sabrina¹² (AUTHOR), Melani, Federico¹⁰ (AUTHOR), Moggio, Maurizio¹³ (AUTHOR), Mongini, Tiziana E.¹⁴ (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Dec2022, Vol. 23 Issue 23, p14567. 12p.

How to define and enhance diagnostic and assistance pathways in neuromuscular diseases during the COVID-19 pandemic: the concept of network

Autor: Astrea, Guja, Marinella, Gemma, Agosto, Caterina, Gagliardi, Delia, Grandis, Marina, Giuliano, Maria, Politano, Luisa

Publikováno v: Acta Myologica

The main consequence of the COVID-19 pandemic has been to increase the distance between patients and their doctors and to limit the opportunities to compare experiences and clinical cases in the medical community. Based on this, we adopted a strategy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::be88a29183b65c55a3662d8d3fcc46c5
http://europepmc.org/articles/PMC8744015

Further characterization of NFIB‐associated phenotypes: Report of two new individuals.

Autor: Marinella, Gemma, Conti, Eugenia, Buchignani, Bianca, Sgherri, Giada, Pasquariello, Rosa, Giordano, Flavio, Cristofani, Paola, Battini, Roberta, Battaglia, Agatino

Publikováno v: American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p540-545, 6p