Nampoothiri, Sheela

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., et al. (2013) · Human Mutation

Genomics and Rare DiseasesChromatin Remodeling and Cancer

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Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Malfait, F., Syx, D., Vlummens, P., Symoens, S., Nampoothiri, S., Hermanns-Lê, T., Van Laer, L., & De Paepe, A. (2010) · Human Mutation

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

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Turner syndrome in diverse populations

Kruszka, P., Addissie, Y. A., Tekendo‐Ngongang, C., Jones, K. L., Savage, S. K., Gupta, N., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Aravena, T., et al. (2020) · American Journal of Medical Genetics Part A

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

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