Items where Author is "Gambin, T."

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Volpi, S. and Cicalese, M. P. and Tuijnenburg, P. and Tool, A. T. J. and Cuadrado, E. and Abu-Halaweh, M. and Ahanchian, H. and Alzyoud, R. and Akdemir, Z. C. and Barzaghi, F. and Blank, A. and Boisson, B. and Bottino, C. and Brigida, I. and Caorsi, R. and Casanova, J. L. and Chiesa, S. and Chinn, I. K. and Dückers, G. and Enders, A. and Erichsen, H. C. and Forbes, L. R. and Gambin, T. and Gattorno, M. and Karimiani, E. G. and Giliani, S. and Gold, M. S. and Jacobsen, E. M. and Jansen, M. H. and King, J. R. and Laxer, R. M. and Lupski, J. R. and Mace, E. and Marcenaro, S. and Maroofian, R. and Meijer, A. B. and Niehues, T. and Notarangelo, L. D. and Orange, J. and Pannicke, U. and Pearson, C. and Picco, P. and Quinn, P. J. and Schulz, A. and Seeborg, F. and Stray-Pedersen, A. and Tawamie, H. and van Leeuwen, E. M. M. and Aiuti, A. and Yeung, R. and Schwarz, K. and Kuijpers, T. W. (2019) A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency. Journal of Allergy and Clinical Immunology, 143 (6). pp. 2296-2299.

Makrythanasis, P. and Maroofian, R. and Stray-Pedersen, A. and Musaev, D. and Zaki, M. S. and Mahmoud, I. G. and Selim, L. and Elbadawy, A. and Jhangiani, S. N. and Coban Akdemir, Z. H. and Gambin, T. and Sorte, H. S. and Heiberg, A. and McEvoy-Venneri, J. and James, K. N. and Stanley, V. and Belandres, D. and Guipponi, M. and Santoni, F. A. and Ahangari, N. and Tara, F. and Doosti, M. and Iwaszkiewicz, J. and Zoete, V. and Backe, P. H. and Hamamy, H. and Gleeson, J. G. and Lupski, J. R. and Karimiani, E. G. and Antonarakis, S. E. (2018) Biallelic variants in KIF14 cause intellectual disability with microcephaly. European Journal of Human Genetics, 26 (3). pp. 330-339.

This list was generated on Fri Sep 18 12:46:36 2020 EDT.