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Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsEleanor Broeren, Vanessa Gitau, Alicia Byrne, et al.
Nature Genetics|November 8, 2016
Mycobacterium tuberculosis lineage 4 comprises globally distributed and geographically restricted sublineagesDavid Stucki, Daniela Brites, Leïla Jeljeli, et al.
Genetics in Medicine Open|June 11, 2025
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationshipsEleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, et al.
The Lancet. Infectious Diseases|February 16, 2025
Global guideline for the diagnosis and management of candidiasis: an initiative of the ECMM in cooperation with ISHAM and ASMOliver A Cornely, Rosanne Sprute, Matteo Bassetti, et al.
Frontiers in Immunology|July 25, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of ImmunityKoon-Wing Chan, Chung-Yin Wong, Daniel Leung, et al.
Medicine|November 9, 2010
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countriesLudovic de Beaucoudrey, Arina Samarina, Jacinta Bustamante, et al.
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