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Št. zadetkov: 2
International clinical evidence-based guideline for Kleefstra Syndrome
Arianne Bouman, Charlotte M. W. Gaasterland, Carla Sloof-Enthoven, Tanja Zdolšek, Tjitske Kleefstra
Pregledni znanstveni članek
Oznake: sindrom Kleefstra;klinične smernice;obravnava bolnikov;Kleefstra syndrome;clinical guideline;treatment;
Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder (mNDD) with multisystem involvement, caused by disruption of EHMT1 function, resulting in significant burden on affected individuals and their families. The current shortage of and globally scattered syndrome-specific knowle ...
Leto: 2026 Vir: Institut Jožef Stefan (IJS)
Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome
Charlotte M.W. Gaasterland, Mirthe J. Klein Haneveld, Barber M. Tinselboer, Yuri A. Zarate, Damjan Osredkar, Agnies M. van Eeghen, Erika Stariha
Izvirni znanstveni članek
Oznake: clinical practice guidelines;rare diseases;prioritization;guideline methodology;systematic reviews;European reference network;
Objective SATB2-associated syndrome (SAS) is a rare genetic condition characterized by developmental delay and typical features. Currently, an evidence-based Clinical Practice Guideline (CPG) is being developed by European Reference Network ITHACA in close collaboration with the patient community. T ...
Leto: 2026 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 2
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