Items where authors include "Albaba, S."

Article

Woods, E. orcid.org/0000-0003-2349-2688, Holmes, N., Albaba, S. et al. (2 more authors) (2024) ASXL3‐related disorder: molecular phenotyping and comprehensive review providing insights into disease mechanism. Clinical Genetics, 105 (5). pp. 470-487. ISSN 0009-9163

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Dingemans, A.J.M., Albaba, S. et al. (36 more authors) (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29 (4). pp. 625-636. ISSN 1018-4813

Yates, T.M., Campeau, P.M., Ghoumid, J. et al. (6 more authors) (2020) Biallelic variants in GLE1 with survival beyond neonatal period. Clinical Genetics, 98 (6). pp. 622-625. ISSN 0009-9163

Durkin, A., Albaba, S., Fry, A.E. et al. (19 more authors) (2020) Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A, 182 (7). pp. 1637-1654. ISSN 1552-4825

Lam, Z., Albaba, S., Study, D.D.D. et al. (1 more author) (2020) Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. Clinical Dysmorphology, 29 (1). pp. 10-16. ISSN 0962-8827