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Page 1
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 … See abstract for full author list ➔ Aker M, et al. Among authors: harms f. Phys Rev Lett. 2019 Nov 29;123(22):221802. doi: 10.1103/PhysRevLett.123.221802. Phys Rev Lett. 2019. PMID: 31868426
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
Pan YE, Tibbe D, Harms FL, Reißner C, Becker K, Dingmann B, Mirzaa G, Kattentidt-Mouravieva AA, Shoukier M, Aggarwal S, Missler M, Kutsche K, Kreienkamp HJ. Pan YE, et al. J Neurochem. 2021 May;157(4):1331-1350. doi: 10.1111/jnc.15215. Epub 2020 Nov 4. J Neurochem. 2021. PMID: 33090494 Free 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.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Polovitskaya MM, Barbini C, Martinelli D, Harms FL, Cole FS, Calligari P, Bocchinfuso G, Stella L, Ciolfi A, Niceta M, Rizza T, Shinawi M, Sisco K, Johannsen J, Denecke J, Carrozzo R, Wegner DJ, Kutsche K, Tartaglia M, Jentsch TJ. Polovitskaya MM, et al. Among authors: harms fl. Am J Hum Genet. 2020 Dec 3;107(6):1062-1077. doi: 10.1016/j.ajhg.2020.11.004. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217309 Free PMC article.
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Schöpflin R, Mensah MA, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms FL, Kornak U, Spielmann M, Mundlos S, Van Maldergem L. Melo US, et al. Among authors: harms fl. Hum Genet. 2021 Oct;140(10):1459-1469. doi: 10.1007/s00439-021-02344-6. Epub 2021 Aug 26. Hum Genet. 2021. PMID: 34436670 Free PMC article.
98 results