Items where authors include "Schirwani, S."

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Number of items: 7.

Article

Schirwani, S., Woods, E., Koolen, D.A. et al. (8 more authors) (2022) Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype. American Journal of Medical Genetics Part A. ISSN 1552-4825

Williams, S.T., Chatzikyriakou, P., Carroll, P.V. et al. (34 more authors) (2022) SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series. Clinical Endocrinology, 96 (4). pp. 499-512. ISSN 0300-0664

Schirwani, S., Hauser, N., Platt, A. et al. (6 more authors) (2020) Mosaicism in ASXL3-related syndrome : description of five patients from three families. European Journal of Medical Genetics, 63 (6). 103925. ISSN 1769-7212

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Verschueren, A., Kleevens, S. et al. (9 more authors) (2019) Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. Bone, 121. pp. 191-195. ISSN 8756-3282

Schirwani, S., McConnell, V., Willoughby, J. et al. (2 more authors) (2019) Exploring the association between SRPX2 variants and neurodevelopment: How causal is it? Gene, 685. pp. 50-54. ISSN 0378-1119

Schirwani, S. orcid.org/0000-0001-9602-4063, Wakeling, E., Smith, K. et al. (2 more authors) (2018) Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability. American Journal of Medical Genetics Part A, 176 (5). pp. 1238-1244. ISSN 1552-4825

Schirwani, S., Smith, K. and Balasubramanian, M. orcid.org/0000-0003-1488-3695 (2018) Clinical and molecular characterization of the first familial report of 1p32 microdeletion. Clinical Dysmorphology, 27 (2). pp. 36-41. ISSN 0962-8827

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