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An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. Steenweg ME, et al. Among authors: baumann m. Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Hum Mutat. 2010. PMID: 20052767 Review.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M. Schlingmann KP, et al. Among authors: baumann m. Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004. Am J Hum Genet. 2018. PMID: 30388404 Free PMC article.
Extreme elevational migration spurred cryptic speciation in giant hummingbirds.
Williamson JL, Gyllenhaal EF, Bauernfeind SM, Bautista E, Baumann MJ, Gadek CR, Marra PP, Ricote N, Valqui T, Bozinovic F, Singh ND, Witt CC. Williamson JL, et al. Among authors: baumann mj. Proc Natl Acad Sci U S A. 2024 May 21;121(21):e2313599121. doi: 10.1073/pnas.2313599121. Epub 2024 May 13. Proc Natl Acad Sci U S A. 2024. PMID: 38739790
Engineering Graphene Phototransistors for High Dynamic Range Applications.
Nashashibi S, Koepfli SM, Schwanninger R, Baumann M, Doderer M, Bisang D, Fedoryshyn Y, Leuthold J. Nashashibi S, et al. Among authors: baumann m. ACS Nano. 2024 May 21;18(20):12760-12770. doi: 10.1021/acsnano.3c11856. Epub 2024 May 10. ACS Nano. 2024. PMID: 38728257
Corrigendum to "Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis" [Eur. J. Paediatr. Neurol. 47 (2023) 118-130].
Quack L, Glatter S, Wegener-Panzer A, Cleaveland R, Bertolini A, Endmayr V, Seidl R, Breu M, Wendel E, Schimmel M, Baumann M, Rauchenzauner M, Pritsch M, Boy N, Muralter T, Kluger G, Makoswski C, Kraus V, Leiz S, Loehr-Nilles C, Kreth JH, Braig S, Schilling S, Kern J, Blank C, Tro Baumann B, Vieth S, Wallot M, Reindl M, Ringl H, Wandinger KP, Leypoldt F, Höftberger R, Rostásy K. Quack L, et al. Among authors: baumann m. Eur J Paediatr Neurol. 2024 Apr 30:S1090-3798(24)00056-4. doi: 10.1016/j.ejpn.2024.04.010. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38692980 No abstract available.
2,080 results