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Year | Number of Results |
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2021 | 3 |
2022 | 4 |
2023 | 1 |
2024 | 0 |
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Page 1
Expanded phenotype of AARS1-related white matter disease.
Genet Med. 2021 Dec;23(12):2352-2359. doi: 10.1038/s41436-021-01286-8. Epub 2021 Aug 27.
Genet Med. 2021.
PMID: 34446925
Free article.
Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis.
Cordts I, Hecker JS, Gauck D, Park J, Härtl J, Günthner R, Hammitzsch A, Schoser B, Abeck D, Götze KS, Haack TB, Deschauer M, Moog P, Hemmer B.
Cordts I, et al. Among authors: gauck d.
Rheumatology (Oxford). 2022 May 5;61(5):e117-e119. doi: 10.1093/rheumatology/keab866.
Rheumatology (Oxford). 2022.
PMID: 34894213
No abstract available.
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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F.
Laugwitz L, et al. Among authors: gauck d.
J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16.
J Med Genet. 2022.
PMID: 34656997
Free PMC article.
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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB.
Falb RJ, et al. Among authors: gauck d.
J Med Genet. 2023 Jan;60(1):48-56. doi: 10.1136/jmedgenet-2021-108064. Epub 2021 Nov 5.
J Med Genet. 2023.
PMID: 34740919
Free PMC article.
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A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert-Lo R, Baumann S, Schäferhoff K, Bertrand M, Menden B, Sturm M, Schütz L, Riess O, Ossowski S, Haack TB, Kagan KO.
Dufke A, et al. Among authors: gauck d.
Prenat Diagn. 2022 Jun;42(7):901-910. doi: 10.1002/pd.6170. Epub 2022 May 20.
Prenat Diagn. 2022.
PMID: 35574990
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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Averdunk L, Donkervoort S, Horn D, Waldmüller S, Syeda S, Neuhaus SB, Chao KR, van Riesen A, Gauck D, Haack T, Japp AS, Lee U, Bönnemann CG, Mayatepek E, Distelmaier F.
Averdunk L, et al. Among authors: gauck d.
Neuropediatrics. 2022 Oct;53(5):309-320. doi: 10.1055/a-1859-0800. Epub 2022 May 23.
Neuropediatrics. 2022.
PMID: 35605965
Free article.
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