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FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29.
Genet Med. 2018.
PMID: 28661489
Free article.
Paternally Inherited IGF2 Mutation and Growth Restriction.
Begemann M, Zirn B, Santen G, Wirthgen E, Soellner L, Büttel HM, Schweizer R, van Workum W, Binder G, Eggermann T.
Begemann M, et al. Among authors: buttel hm.
N Engl J Med. 2015 Jul 23;373(4):349-56. doi: 10.1056/NEJMoa1415227. Epub 2015 Jul 8.
N Engl J Med. 2015.
PMID: 26154720
Free article.
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Menkes disease with discordant phenotype in female monozygotic twins.
Burgemeister AL, Zirn B, Oeffner F, Kaler SG, Lemm G, Rossier E, Büttel HM.
Burgemeister AL, et al. Among authors: buttel hm.
Am J Med Genet A. 2015 Nov;167A(11):2826-9. doi: 10.1002/ajmg.a.37276. Epub 2015 Aug 4.
Am J Med Genet A. 2015.
PMID: 26239182
Free PMC article.
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Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Wente S, Schröder S, Buckard J, Büttel HM, von Deimling F, Diener W, Häussler M, Hübschle S, Kinder S, Kurlemann G, Kretzschmar C, Lingen M, Maroske W, Mundt D, Sánchez-Albisua I, Seeger J, Toelle SP, Boltshauser E, Brockmann K.
Wente S, et al. Among authors: buttel hm.
Orphanet J Rare Dis. 2016 Jul 29;11(1):104. doi: 10.1186/s13023-016-0486-z.
Orphanet J Rare Dis. 2016.
PMID: 27473762
Free PMC article.
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Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K.
Pringsheim M, et al. Among authors: buttel hm.
Ann Clin Transl Neurol. 2019 Mar 3;6(4):655-668. doi: 10.1002/acn3.735. eCollection 2019 Apr.
Ann Clin Transl Neurol. 2019.
PMID: 31019990
Free PMC article.
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The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K.
Schröder S, et al. Among authors: buttel hm.
Orphanet J Rare Dis. 2023 May 2;18(1):101. doi: 10.1186/s13023-023-02706-5.
Orphanet J Rare Dis. 2023.
PMID: 37131188
Free PMC article.
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