Search Results - "Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta"

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data by Quinodoz, Mathieu, Peter, Virginie G, Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Santos, Maria Luisa, Superti-Furga, Andrea, Rivolta, Carlo

“…© The Author(s) 2021. Open AccessThis article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation,…”
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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation by Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.

“…EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway,…”
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The added value of a multidisciplinary clinic for systemic autoinflammatory diseases by Zinterl, Carolina, Costa Reis, Patricia, Esteves, Isabel Castro, MARQUES, JOSÉ, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Fonseca, João, Oliveira Ramos, Filipa

“…© 2022 The Author(s). This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at…”
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Monozygotic twins concordant for common variable immunodeficiency : strikingly similar clinical and immune profile associated with a polygenic burden by Silva, Susana L., Fonseca, Mariana, Pereira, Marcelo L. M., Silva, Sara P., Barbosa, Rita R., Caetano, Ana, Blanco, Elena, Rosmaninho, Pedro, Pérez-Andrés, Martin, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Raposo, Alexandre, da Gama Carvalho, Margarida, Victorino, Rui, Hammarstrom, Lennart, Sousa, Ana E.

“…Copyright © 2019 Silva, Fonseca, Pereira, Silva, Barbosa, Serra-Caetano, Blanco, Rosmaninho, Pérez-Andrés, Sousa, Raposo, Gama-Carvalho, Victorino, Hammarstrom…”
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