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SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.
Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nouri MN, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. Stefanski A, et al. Among authors: drewes s. Brain. 2023 Dec 1;146(12):5198-5208. doi: 10.1093/brain/awad292. Brain. 2023. PMID: 37647852 Free PMC article.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Cabrera-Serrano M, Caccavelli L, Savarese M, Vihola A, Jokela M, Johari M, Capiod T, Madrange M, Bugiardini E, Brady S, Quinlivan R, Merve A, Scalco R, Hilton-Jones D, Houlden H, Aydin HI, Ceylaner S, Drewes S, Vockley J, Taylor RL, Folland C, Kelly A, Goullee H, Ylikallio E, Auranen M, Tyynismaa H, Udd B, Forrest ARR, Davis MR, Bratkovic D, Manton N, Robertson T, O'Gorman C, McCombe P, Laing NG, Phillips L, de Lonlay P, Ravenscroft G. Cabrera-Serrano M, et al. Among authors: drewes s. Brain. 2022 Nov 21;145(11):3985-3998. doi: 10.1093/brain/awab484. Brain. 2022. PMID: 34957489 Free article.
A familial case of CAMK2B mutation with variable expressivity.
Heiman P, Drewes S, Ghaloul-Gonzalez L. Heiman P, et al. Among authors: drewes s. SAGE Open Med Case Rep. 2021 Feb 1;9:2050313X21990982. doi: 10.1177/2050313X21990982. eCollection 2021. SAGE Open Med Case Rep. 2021. PMID: 33796307 Free PMC article.
Reproductive outcomes in individuals with chromosomal reciprocal translocations.
Verdoni A, Hu J, Surti U, Babcock M, Sheehan E, Clemens M, Drewes S, Walsh L, Clark R, Katari S, Sanfilippo J, Saller DN, Rajkovic A, Yatsenko SA. Verdoni A, et al. Among authors: drewes s. Genet Med. 2021 Sep;23(9):1753-1760. doi: 10.1038/s41436-021-01195-w. Epub 2021 May 10. Genet Med. 2021. PMID: 33972719 Free article.
Hantavirus Disease Cluster Caused by Seoul Virus, Germany.
Hofmann J, Ulrich RG, Mehl C, Drewes S, Esser J, Loyen M, Zeichhardt H, Schoppmeyer K, Essen L, Güthoff W, Krüger DH. Hofmann J, et al. Among authors: drewes s. Emerg Infect Dis. 2024 Jan;30(1):133-135. doi: 10.3201/eid3001.230855. Emerg Infect Dis. 2024. PMID: 38147030 Free PMC article.
[Viral zoonoses in Germany: a One Health perspective].
Ulrich RG, Drewes S, Haring V, Panajotov J, Pfeffer M, Rubbenstroth D, Dreesman J, Beer M, Dobler G, Knauf S, Johne R, Böhmer MM. Ulrich RG, et al. Among authors: drewes s. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023 Jun;66(6):599-616. doi: 10.1007/s00103-023-03709-0. Epub 2023 Jun 1. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023. PMID: 37261460 Free PMC article. Review. German.
Pet Rats as the Likely Reservoir for Human Seoul Orthohantavirus Infection.
Heuser E, Drewes S, Trimpert J, Kunec D, Mehl C, de Cock MP, de Vries A, Klier C, Oskamp M, Tenhaken P, Hashemi F, Heinz D, Nascimento M, Boelhauve M, Petraityte-Burneikiene R, Raafat D, Maas M, Krüger DH, Latz A, Hofmann J, Heckel G, Dreesman J, Ulrich RG. Heuser E, et al. Among authors: drewes s. Viruses. 2023 Feb 7;15(2):467. doi: 10.3390/v15020467. Viruses. 2023. PMID: 36851681 Free PMC article.
91 results