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Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.
Neurogenetics. 2010 Feb;11(1):81-9. doi: 10.1007/s10048-009-0205-1. Epub 2009 Jul 7.
Neurogenetics. 2010.
PMID: 19582487
Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome.
Bartsch O, Schneider E, Damatova N, Weis R, Tufano M, Iorio R, Ahmed A, Beyer V, Zechner U, Haaf T.
Bartsch O, et al. Among authors: damatova n.
Am J Med Genet A. 2010 Aug;152A(8):2099-102. doi: 10.1002/ajmg.a.33542.
Am J Med Genet A. 2010.
PMID: 20635403
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Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.
Zechner U, Kohlschmidt N, Rittner G, Damatova N, Beyer V, Haaf T, Bartsch O.
Zechner U, et al. Among authors: damatova n.
Clin Genet. 2009 Mar;75(3):251-8. doi: 10.1111/j.1399-0004.2008.01116.x.
Clin Genet. 2009.
PMID: 19250383
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Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.
Damatova N, Beyer V, Galetzka D, Schneider E, Napiontek U, Keilmann A, Zechner U, Bartsch O, Haaf T.
Damatova N, et al.
Cytogenet Genome Res. 2009;125(3):241-7. doi: 10.1159/000230008. Epub 2009 Sep 4.
Cytogenet Genome Res. 2009.
PMID: 19738384
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Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.
Behnecke A, Hinderhofer K, Bartsch O, Nümann A, Ipach ML, Damatova N, Haaf T, Dufke A, Riess O, Moog U.
Behnecke A, et al. Among authors: damatova n.
Am J Med Genet A. 2011 Feb;155A(2):372-9. doi: 10.1002/ajmg.a.33656. Epub 2010 Oct 28.
Am J Med Genet A. 2011.
PMID: 21271657
Review.
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Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW.
Speckmann C, et al. Among authors: damatova n.
Front Immunol. 2017 Oct 2;8:1250. doi: 10.3389/fimmu.2017.01250. eCollection 2017.
Front Immunol. 2017.
PMID: 28989339
Free PMC article.
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Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW.
Speckmann C, et al. Among authors: damatova n.
Front Immunol. 2017 May 1;8:449. doi: 10.3389/fimmu.2017.00449. eCollection 2017.
Front Immunol. 2017.
PMID: 28507545
Free PMC article.
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Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrötter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hübner C, Kaindl AM.
Hu H, et al. Among authors: damatova n.
Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. doi: 10.1002/acn3.149. Epub 2014 Dec 3.
Ann Clin Transl Neurol. 2014.
PMID: 25574476
Free PMC article.
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