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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Neuropediatrics. 2022 Oct;53(5):309-320. doi: 10.1055/a-1859-0800. Epub 2022 May 23.
Neuropediatrics. 2022.
PMID: 35605965
Free article.
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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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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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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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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Expanded phenotype of AARS1-related white matter disease.
Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA.
Helman G, et al. Among authors: gauck d.
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.
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Hybrid clone cells derived from human breast epithelial cells and human breast cancer cells exhibit properties of cancer stem/initiating cells.
Gauck D, Keil S, Niggemann B, Zänker KS, Dittmar T.
Gauck D, et al.
BMC Cancer. 2017 Aug 2;17(1):515. doi: 10.1186/s12885-017-3509-9.
BMC Cancer. 2017.
PMID: 28768501
Free PMC article.
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Implications for a Wireless, External Device System to Study Electrocorticography.
Rotermund D, Pistor J, Hoeffmann J, Schellenberg T, Boll D, Tolstosheeva E, Gauck D, Stemmann H, Peters-Drolshagen D, Kreiter AK, Schneider M, Paul S, Lang W, Pawelzik KR.
Rotermund D, et al. Among authors: gauck d.
Sensors (Basel). 2017 Apr 4;17(4):761. doi: 10.3390/s17040761.
Sensors (Basel). 2017.
PMID: 28375161
Free PMC article.
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