Items where authors include "Hartill, V."

Article

Poleg, T., Hadar, N., Kristal, E. et al. (19 more authors) (2025) Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B. Movement Disorders. ISSN 0885-3185

Hartill, V. orcid.org/0000-0003-2537-8205, Kabir, M., Best, S. et al. (16 more authors) (2025) Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project. European Journal of Human Genetics, 33. pp. 793-802. ISSN 1018-4813

Hartill, V., Kabir, M., Best, S. et al. (16 more authors) (2024) Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project. European Journal of Human Genetics. ISSN 1018-4813

Larsen, I.S.B., Povolo, L. orcid.org/0000-0001-7927-823X, Zhou, L. et al. (17 more authors) (2023) The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase. Proceedings of the National Academy of Sciences, 120 (21). e2302584120. ISSN 0027-8424