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Št. zadetkov: 2
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network
Aleš Maver, Katja Lohmann, Fran Borovečki, Nicola Wolstenholme, Rachel L. Taylor, Malte Spielmann, Tobias B. Haack, Matthias Gerberding, Borut Peterlin, Holm Graessner
Izvirni znanstveni članek
Oznake: next-generation sequencing;neurological disorders;genetic diagnostics;rare diseases;
In the past decade, next-generation sequencing (NGS) has revolutionised genetic diagnostics for rare neurological disorders (RND). However, the lack of standardised technical, interpretative, and reporting standards poses a challenge for ensuring consistent and high-quality diagnostics globally. To ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Final report on women’s careers progression
Ana Rotter, Ernesta Grigalionyte-Bembič, Jan Ulčar, Andrea Wolfram, Janne Haack, Madlen Baumert, Veronika Mešková, Teresa Carvalho, Carina Jordão, Sara Diogo, Hana Himi, Maya Ashkenazi
Elaborat, predštudija, študija
Oznake: biologija;znanost;enakost med spoloma;karierno napredovanje;Horizon2020;raziskovalni projekti;
The main objective of this deliverable is to evaluate what impact the CHANGE project had on GEP implementing partners and CHANGE team members. The deliverable is based on the data obtained from self-assessment forms, which were filled in by CHANGE implementing partners in February 2022. This report ...
Leto: 2022 Vir: Nacionalni inštitut za biologijo (NIB)
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