Search Results - "Beyer, Vera"

In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells by Fatima, Azra, Xu, Guoxing, Shao, Kaifeng, Papadopoulos, Symeon, Lehmann, Martin, Arnáiz-Cot, Juan J., Rosa, Angelo O., Nguemo, Filomain, Matzkies, Matthias, Dittmann, Sven, Stone, Susannah L., Linke, Matthias, Zechner, Ulrich, Beyer, Vera, Hennies, Hans Christian, Rosenkranz, Stephan, Klauke, Baerbel, Parwani, Abdul S., Haverkamp, Wilhelm, Pfitzer, Gabriele, Farr, Martin, Cleemann, Lars, Morad, Martin, Milting, Hendrik, Hescheler, Juergen, Šaric, Tomo

“…Background/Aims: Induced pluripotent stem (iPS) cells generated from accessible adult cells of patients with genetic diseases open unprecedented opportunities…”
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Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer by Galetzka, Danuta, Hansmann, Tamara, El Hajj, Nady, Weis, Eva, Irmscher, Benjamin, Ludwig, Marco, Schneider-Rätzke, Brigitte, Kohlschmidt, Nicolai, Beyer, Vera, Bartsch, Oliver, Zechner, Ulrich, Spix, Claudia, Haaf, Thomas

“…We describe monozygotic twins discordant for childhood leukemia and secondary thyroid carcinoma. We used bisulfite pyrosequencing to compare the constitutive…”
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Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome by Bartsch, Oliver, Schneider, Eberhard, Damatova, Natalja, Weis, Roger, Tufano, Maria, Iorio, Raffaele, Ahmed, Alischo, Beyer, Vera, Zechner, Ulrich, Haaf, Thomas

“…We report on a 4‐year‐old girl with severe developmental delay, absent speech, and chromosome 22q13.3 deletion (Phelan–McDermid syndrome), karyotype 46,XX.ish…”
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Le cadre doré : relique d’une incorporation ? by Beyer, Vera

“…Ce texte analyse les implications du retrait du fond doré dans le cadre doré à la fin du Moyen Âge en comparant le portrait de Louis II d’Anjou de la…”
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A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition by Häuser, Friederike, Gökce, Seyfullah, Werner, Gesa, Danckwardt, Sven, Sollfrank, Stefanie, Neukirch, Carolin, Beyer, Vera, Hennermann, Julia B., Lackner, Karl J., Mengel, Eugen, Rossmann, Heidi

“…Interpretation of genetic variants detected by sequencing of genomic DNA, which may cause splicing defects, regularly requires mRNA analysis. Usually, only…”
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Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder by Poot, Martin, Beyer, Vera, Schwaab, Ira, Damatova, Natalja, van’t Slot, Ruben, Prothero, Jo, Holder, Sue E., Haaf, Thomas

“…Patients with autism spectrum disorder (ASD) frequently harbour chromosome rearrangements and segmental aneuploidies, which allow us to identify candidate…”
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Contextualising Choices: Islamicate Elements in European Arts by Beyer, Vera, Dolezalek, Isabelle

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Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment by Schneider, Eberhard, Märker, Tina, Daser, Angelika, Frey-Mahn, Gabriele, Beyer, Vera, Farcas, Ruxandra, Schneider-Rätzke, Brigitte, Kohlschmidt, Nicolai, Grossmann, Bärbel, Bauss, Katharina, Napiontek, Ulrike, Keilmann, Annerose, Bartsch, Oliver, Zechner, Ulrich, Wolfrum, Uwe, Haaf, Thomas

“…A homozygous reciprocal translocation, 46,XY,t(10;11),t(10;11), was detected in a boy with non-syndromic congenital sensorineural hearing impairment. Both…”
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Skeletal abnormalities of the upper limbs — Neonatal diagnosis of 49,XXXXY syndrome by Kidszun, André, Fuchs, Anne-Jule, Russo, Alexandra, Bartsch, Marius, Frey-Mahn, Gabriele, Beyer, Vera, Zechner, Ulrich, Bartsch, Oliver, Mildenberger, Eva

“…A case of neonatal diagnosis of 49,XXXXY syndrome is presented. Clinical identification was prompted by a bilateral thickening of the radioulnar joints and…”
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Le cadre doré : relique d’une incorporation ? by Beyer, Vera

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Law or Independence – What Does the Frame Stand For? by Beyer, Vera

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Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception by Poot, Martin, van't Slot, Ruben, Leupert, Romina, Beyer, Vera, Passarge, Eberhard, Haaf, Thomas

“…Abstract A 32-year-old female patient, observed for 30 years because of a distinctive phenotype consisting of a dysmorphic face non-progressive deficit of…”
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A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12 by Bartsch, Oliver, Schindler, Detlev, Beyer, Vera, Gesk, Stefan, van’t Slot, Ruben, Feddersen, Isa, Buijs, Arjan, Jaspers, Nicolaas G.J., Siebert, Reiner, Haaf, Thomas, Poot, Martin

“…A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of…”
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A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12 by Bartsch, Oliver, Schindler, Detlev, Beyer, Vera, Gesk, Stefan, van’t Slot, Ruben, Feddersen, Isa, Buijs, Arjan, Jaspers, Nicolaas G.J, Siebert, Reiner, Haaf, Thomas, Poot, Martin

“…Abstract A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of…”
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Corrigendum: Fulminant Hepatic Failure Requiring Liver Transplantation in 22q13.3 Deletion Syndrome by Bartsch, Oliver, Schneider, Eberhard, Damatova, Natalja, Weis, Roger, Tufano, Maria, Iorio, Raffaele, Ahmed, Alischo, Engelmann, Guido, Flechtenmacher, Christa, Beyer, Vera, Zechner, Ulrich, Haaf, Thomas

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Law or Independence – What Does the Frame Stand For? by Beyer, Vera

“…Dans sa conception classique, le cadre donne de la légitimité, de l'autorité et de la crédibilité à la vision du monde qui y est représentée ; il donne du…”
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Patient with Kabuki syndrome and acute leukemia by Scherer, Sabine, Theile, Ursel, Beyer, Vera, Ferrari, Rudolf, Kreck, Christiane, Rister, Manfred

“…Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome which often involves recurrent infections. There is cumulative evidence of an…”
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Le cadre doré : relique d'une incorporation? by Beyer, Vera

“…The author analyzes the implications of the withdrawal of the gold background in the gold frame in the late Middle Ages by comparing the "Portrait of Louis II…”
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Hommage à Daniel Arasse by Beyer, Vera, Blanc, Jan, Elis, Aurelia, Lesbros, Delphine, Martin, Pauline, Parise, Maddalena, Sapir, Itay, Villemur, Frédérique

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Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome by Bartsch, Oliver, Schneider, Eberhard, Damatova, Natalja, Weis, Roger, Tufano, Maria, Iorio, Raffaele, Ahmed, Alischo, Beyer, Vera, Zechner, Ulrich, Haaf, Thomas

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