Patel, Smita

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Miot, C., Imai, K., Imai, C., Mancini, A. J., Kucuk, Z. Y., Kawai, T., Nishikomori, R., Ito, E., Pellier, I., Dupuis Girod, S., et al. (2017) · Blood

Immunodeficiency and Autoimmune DisordersHematopoietic Stem Cell Transplantation

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