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European Journal of Human Genetics : EJHG|June 16, 2018
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reportsAafke Engwerda, Barbara Frentz, A Lya den Ouden, et al.Orphanet Journal of Rare Diseases|March 20, 2023
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availabilityAafke Engwerda, Barbara Frentz, Eleana Rraku, et al.European Journal of Human Genetics : EJHG|August 30, 2021
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobilityAafke Engwerda, Erika K S M Leenders, Barbara Frentz, et al.Pageof 1