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Page 1
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Genet Med. 2023 Oct;25(10):100927. doi: 10.1016/j.gim.2023.100927. Epub 2023 Jul 6. Genet Med. 2023. PMID: 37422718 Free 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
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.
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.
37 results