Utility of whole-genome sequencing in the clinical diagnostic of rare inherited anaemias

Autor: Camps, C, Roy, NBA, Dreau, H, Henderson, S, Knight, SJL, Kvikstad, EM, Pentony, MM, Proven, M, Schuh, A, Taylor, JC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::6341f896c102b6ca25e9fce675f6bdc9
https://ora.ox.ac.uk/objects/uuid:7fecf0e0-0d50-4ccf-989c-c5704c5cc101

Glucophosphate isomerase deficiency identified by next‐generation sequencing

Autor: Vora, S, Proven, M, Hipkiss, R, Ware, P, Howard, K, Dreau, H, Baird, S, Ouwehand, W, Megy, K, Stirrups, K, Lim, D, Norton, A, Kumar, A, Roberts, I, Layton, M, Roy, N

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1064::a5a5bd5ab2c73f5395764ca50ab12a97
https://doi.org/10.1111/bjh.15854

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Autor: Akimoto, C, Volk, AE, van Blitterswijk, M, Van den Broeck, M, Leblond, CS, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, van der Zee, J, Alstermark, H, Birve, A, Calini, D, Nordin, A, Tradowsky, DC, Just, W, Daoud, H, Angerbauer, S, DeJesus-Hernandez, M, Konno, T, Lloyd-Jani, A, de Carvalho, M, Mouzat, K, Landers, JE, Veldink, JH, Silani, V, Gitler, AD, Shaw, CE, Rouleau, GA, van den Berg, LH, Van Broeckhoven, C, Rademakers, R, Andersen, PM, Kubisch, C

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Medical Genetics
Journal of medical genetics

Copyright © 2014, BMJ Publishing Group Ltd. All rights reserved. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b956165adffc96021c985bf49b25688
https://hdl.handle.net/10451/51170

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