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Orphanet Journal of Rare Diseases|February 15, 2022
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort studyHelge Hebestreit, Cornelia Zeidler, Christopher Schippers, et al.Molecular Psychiatry|August 10, 2022
Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traitsAet O'Leary, Noèlia Fernàndez-Castillo, Gabriela Gan, et al.European Journal of Human Genetics : EJHG|December 1, 2011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka, Ratna Veeramachaneni, William Reardon, et al.Pageof 7