Amsterdam Neuroscience
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Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
Kleinendorst, L., van Uhm, J., Jansen, P. R., van Eeghen, A. M., Maas, S. M., Mannens, M. M. A. M. & van Haelst, M. M., Nov 2024, In: European journal of human genetics. 32, 11, p. 1387-1401 15 p.Research output: Contribution to journal › Article › Academic › peer-review
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Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
Dougherty, G. W., Ostrowski, L. E., Nothe-Menchen, T., Raidt, J., Schramm, A., Olbrich, H., Yin, W., Sears, P. R., Dang, H., Smith, A. J., Beule, A. G., Hjeij, R., Maas, S. M., Ferkol, T. W., Noone, P. G., Bracht, D. C., Barbry, P., Zaragosi, L.-E., Fierville, M. & Kliesch, S. & 17 others, , 1 Jul 2024, In: American journal of respiratory and critical care medicine. 210, 1, p. 63-76 14 p.Research output: Contribution to journal › Article › Academic › peer-review
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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
Kishikawa, S., Shen, Y., Goel, H., Hopper, B., Ranguin, K., Maas, S. M., Lacassie, Y., Kim, S.-H., Quade, B. J. & Kim, H.-G., Dec 2023, In: Scientific reports. 13, 1, p. 12984 12984.Research output: Contribution to journal › Article › Academic › peer-review
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