Analysis of tissue from products of conception and perinatal losses using QF-PCR and microarray: A three-year retrospective study resulting in an efficient protocol

Autor: Wou, K., Hyun, Y., Chitayat, D., Vlasschaert, M., Chong, K., Wasim, S., Keating, S., Shannon, P., Kolomietz, E.

Publikováno v: In European Journal of Medical Genetics August 2016 59(8):417-424

Pregnancy outcomes and ultrasonographic diagnosis in patients with histologically-proven placental chorioangioma

Autor: Wou, K., Chen, M.F., Mallozzi, A., Brown, R.N., Shrim, A.

Publikováno v: In Placenta September 2011 32(9):671-674

DEVELOPING A PATIENT INFORMATION TOOL FOR PREGNANT INDIVIDUALS REQUIRING URGENT IMAGING TO RULE OUT PULMONARY EMBOLISM: A NEEDS' ASSESSMENT FROM A PATIENTS' PERSPECTIVE

Autor: Ouellet, S., Hamel, S., Simard, C., Koolian, M., Robert, A., Wou, K., Lam, S., St-Georges, S., Tagalakis, V., De Pokomandy, A., Snell, L., Sun, N., Malhamé, I.

Publikováno v: In Canadian Journal of Diabetes November 2023 47(7) Supplement:S209-S209

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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Autor: Hemati, P, Revah-Politi, A, Bassan, H, Petrovski, S, Bilancia, CG, Ramsey, K, Griffin, NG, Bier, L, Cho, MT, Rosello, M, Lynch, SA, Colombo, S, Weber, A, Haug, M, Heinzen, EL, Sands, TT, Narayanan, V, Primiano, M, Aggarwal, VS, Millan, F, Sattler-Holtrop, SG, Caro-Llopis, A, Pillar, N, Baker, J, Freedman, R, Kroes, HY, Sacharow, S, Stong, N, Lapunzina, P, Schneider, MC, Mendelsohn, NJ, Singleton, A, Ramey, VL, Wou, K, Kuzminsky, A, Monfort, S, Weiss, M, Doyle, S, Iglesias, A, Martinez, F, Mckenzie, F, Orellana, C, van Gassen, KLI, Palomares, M, Bazak, L, Lee, A, Bircher, A, Basel-Vanagaite, L, Hafstrom, M, Houge, G, Goldstein, DB, Anyane-Yeboa, K, C4RCD Res Grp, DDD Study

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::486bbe5121f9c60837d0c3c89ca039a5
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=10064