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Copy Number Variations in Neuropsychiatric Disorders.
Büki G, Hadzsiev K, Bene J. Büki G, et al. Among authors: hadzsiev k. Int J Mol Sci. 2023 Sep 5;24(18):13671. doi: 10.3390/ijms241813671. Int J Mol Sci. 2023. PMID: 37761973 Free PMC article. Review.
Identification of an NF1 Microdeletion with Optical Genome Mapping.
Büki G, Bekő A, Bödör C, Urbán P, Németh K, Hadzsiev K, Fekete G, Kehrer-Sawatzki H, Bene J. Büki G, et al. Among authors: hadzsiev k. Int J Mol Sci. 2023 Sep 1;24(17):13580. doi: 10.3390/ijms241713580. Int J Mol Sci. 2023. PMID: 37686382 Free PMC article.
A novel rapamycin cream formulation improves facial angiofibromas associated with tuberous sclerosis complex: a double-blind randomized placebo-controlled trial.
Aitken P, Stanescu I, Boddington L, Mahon C, Fogarasi A, Liao YH, Ivars M, Moreno-Artero E, Trauner D, DeRoos ST, Jancic J, Nikolic M, Balážová P, Price HN, Hadzsiev K, Riney K, Stapleton S, Tollefson MM, Bauer D, Pinková B, Atkinson H. Aitken P, et al. Among authors: hadzsiev k. Br J Dermatol. 2023 Oct 25;189(5):520-530. doi: 10.1093/bjd/ljad243. Br J Dermatol. 2023. PMID: 37463422 Clinical Trial.
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
Schön M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, Verpelli C, Bourgeron T, Jesse S, van Ravenswaaij-Arts CMA; European Phelan-McDermid syndrome consortium; Hennekam RC. Schön M, et al. Among authors: hadzsiev k. Eur J Med Genet. 2023 Jul;66(7):104754. doi: 10.1016/j.ejmg.2023.104754. Epub 2023 Mar 31. Eur J Med Genet. 2023. PMID: 37003575 Free article.
94 results