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British Medical Bulletin|February 24, 2024
The development of inherited cardiac conditions services: current position and future perspectivesThomas Alway, Rachel Bastiaenen, Antonis Pantazis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2020
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragilityClaire Green, Neeti Ghali, Rhoda Akilapa, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of ATP1A3-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyAsh Zawerton, Cyril Mignot, Ashley Sigafoos, et al.
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