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Page 1
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Among authors: harms fl. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4.
Schuette V, Embgenbroich M, Ulas T, Welz M, Schulte-Schrepping J, Draffehn AM, Quast T, Koch K, Nehring M, König J, Zweynert A, Harms FL, Steiner N, Limmer A, Förster I, Berberich-Siebelt F, Knolle PA, Wohlleber D, Kolanus W, Beyer M, Schultze JL, Burgdorf S. Schuette V, et al. Among authors: harms fl. Proc Natl Acad Sci U S A. 2016 Sep 20;113(38):10649-54. doi: 10.1073/pnas.1605885113. Epub 2016 Sep 6. Proc Natl Acad Sci U S A. 2016. PMID: 27601670 Free PMC article.
Improved Upper Limit on the Neutrino Mass from a Direct Kinematic Method by KATRIN.
Aker M, Altenmüller K, Arenz M, Babutzka M, Barrett J, Bauer S, Beck M, Beglarian A, Behrens J, Bergmann T, Besserer U, Blaum K, Block F, Bobien S, Bokeloh K, Bonn J, Bornschein B, Bornschein L, Bouquet H, Brunst T, Caldwell TS, La Cascio L, Chilingaryan S, Choi W, Corona TJ, Debowski K, Deffert M, Descher M, Doe PJ, Dragoun O, Drexlin G, Dunmore JA, Dyba S, Edzards F, Eisenblätter L, Eitel K, Ellinger E, Engel R, Enomoto S, Erhard M, Eversheim D, Fedkevych M, Felden A, Fischer S, Flatt B, Formaggio JA, Fränkle FM, Franklin GB, Frankrone H, Friedel F, Fuchs D, Fulst A, Furse D, Gauda K, Gemmeke H, Gil W, Glück F, Görhardt S, Groh S, Grohmann S, Grössle R, Gumbsheimer R, Ha Minh M, Hackenjos M, Hannen V, Harms F, Hartmann J, Haußmann N, Heizmann F, Helbing K, Hickford S, Hilk D, Hillen B, Hillesheimer D, Hinz D, Höhn T, Holzapfel B, Holzmann S, Houdy T, Howe MA, Huber A, James TM, Jansen A, Kaboth A, Karl C, Kazachenko O, Kellerer J, Kernert N, Kippenbrock L, Kleesiek M, Klein M, Köhler C, Köllenberger L, Kopmann A, Korzeczek M, Kosmider A, Kovalík A, Krasch B, Kraus M, Krause H, Kuckert L, Kuffner B, Kunka N, Lasserre T, Le TL, Lebeda O, Leber M, Lehnert B, Letnev J, Leven F, Lich… See abstract for full author list ➔ Aker M, et al. Phys Rev Lett. 2019 Nov 29;123(22):221802. doi: 10.1103/PhysRevLett.123.221802. Phys Rev Lett. 2019. PMID: 31868426
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Harms FL, et al. Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017373 Free PMC article.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. Syrbe S, et al. Among authors: harms fl. Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195. Brain. 2017. PMID: 29050398 Free PMC article.
36 results