Items where authors include "Kanani, F."
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Woods, E., Marson, I., Coci, E. et al. (14 more authors) (2022) Expanding the phenotype of TAB2 variants and literature review. American Journal of Medical Genetics Part A, 188 (11). pp. 3331-3342. ISSN 1552-4825
Woods, E., Yates, M., Kanani, F. et al. (1 more author) (2022) Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata. Clinical Dysmorphology, 31 (3). pp. 132-135. ISSN 0962-8827
Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2020) Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy. American Journal of Medical Genetics Part A, 182 (4). pp. 713-720. ISSN 1552-4825
Kanani, F., Mordekar, S., Parker, M.J. et al. (2 more authors) (2019) Dual diagnosis causing severe phenotype in a patient with Angelman syndrome. Clinical Dysmorphology, 28 (3). pp. 158-161. ISSN 0962-8827
Kanani, F. orcid.org/0000-0003-4388-0290, Parker, M.J., Burren, C.P. et al. (2 more authors) (2019) Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype. American Journal of Medical Genetics Part A , 179 (1). pp. 139-140. ISSN 1552-4825
Kanani, F., Study, D. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2018) SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature. Clinical Dysmorphology, 27 (4). pp. 113-115. ISSN 0962-8827
Proceedings Paper
Kanani, F., Titheradge, H., Cooper, N. et al. (10 more authors) (2019) De novo, heterozygous missense variants in YWHAG as a novel cause of developmental and epileptic encephalopathy. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1471-1472.