Publications

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Filters: Author is Khayat, Michael M and First Letter Of Title is P  [Clear All Filters]
2021
Khayat, M. M. et al. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat 42, 577-591 (2021).
2020
Montenegro-Garreaud, X. et al. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat 41, 2094-2104 (2020).
2018
Jiang, Y. et al. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A 176, 1315-1326 (2018).