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Author/Creator Weber, Axel

1. Distinct IL‐1α‐responsive enhancers promote acute and coordinated changes in chromatin topology in a hierarchical manner. (7th November 2019)

Authors:
Weiterer, Sinah‐Sophia; Meier‐Soelch, Johanna; Georgomanolis, Theodore; Mizi, Athanasia; Beyerlein, Anna; Weiser, Hendrik; Brant, Lilija; Mayr‐Buro, Christin; Jurida, Liane; Beuerlein, Knut; Müller, Helmut; Weber, Axel; Tenekeci, Ulas; Dittrich‐Breiholz, Oliver; Bartkuhn, Marek; Nist, Andrea; Sti...
Journal:
EMBO journal
Issue:
Volume 39:Number 1(2020)
Page Start:
n/a
Record Type:
Journal Article
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3. Multicenter clinical experience with non‐invasive cell‐free DNA screening for monosomy X and related X‐chromosome variants. (9th February 2023)

Authors:
Bedei, Ivonne; Gehrke, Tascha; Gloning, Karl‐Philipp; Meyer‐Wittkopf, Matthias; Willner, Daria; Krapp, Martin; Scharf, Alexander; Degenhardt, Jan; Heling, Kai‐Sven; Kozlowski, Peter; Trautmann, Kathrin; Jahns, Kai M.; Geipel, Annegret; Baumüller, Jan‐Erik; Wilhelm, Lucas; Gottschalk, Ingo; Schröe...
Other Names:
Hui Lisa guestEditor.; Langlois Sylvie guestEditor.
Journal:
Prenatal diagnosis
Issue:
Volume 43:Number 2(2023)
Page Start:
192
Record Type:
Journal Article
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4. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. Issue 1 (5th June 2021)

Authors:
Schänzer, Anne; Achleitner, Melanie T.; Trümbach, Dietrich; Hubert, Laurence; Munnich, Arnold; Ahlemeyer, Barbara; AlAbdulrahim, Maha M.; Greif, Philipp A.; Vosberg, Sebastian; Hummer, Blake; Feichtinger, René G.; Mayr, Johannes A.; Wortmann, Saskia B.; Aichner, Heidi; Rudnik‐Schöneborn, Sabine; ...
Journal:
Annals of neurology
Issue:
Volume 90:Issue 1(2021)
Page Start:
143
Record Type:
Journal Article
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5. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Issue 4 (22nd March 2017)

Authors:
Logeswaran, Thushiha; Friedburg, Christoph; Hofmann, Karoline; Akintuerk, Hakan; Biskup, Saskia; Graef, Michael; Rad, Ali; Weber, Axel; Neubauer, Bernd A.; Schranz, Dietmar; Bouvagnet, Patrice; Lorenz, Birgit; Hahn, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 4(2017)
Page Start:
959
Record Type:
Journal Article
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6. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Issue 9 (23rd June 2017)

Authors:
Logeswaran, Thushiha; Friedburg, Christoph; Hofmann, Karoline; Akintuerk, Hakan; Biskup, Saskia; Graef, Michael; Rad, Ali; Weber, Axel; Neubauer, Bernd A.; Schranz, Dietmar; Bouvagnet, Patrice; Lorenz, Birgit; Hahn, Andreas
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 9(2017)
Page Start:
2566
Record Type:
Journal Article
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7. Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation. Issue 2 (2015)

Authors:
Lübking, Anna; Vosberg, Sebastian; Konstandin, Nikola P.; Dufour, Annika; Graf, Alexander; Krebs, Stefan; Blum, Helmut; Weber, Axel; Lenhoff, Stig; Ehinger, Mats; Spiekermann, Karsten; Greif, Philipp A.; Cammenga, Jörg
Journal:
Leukemia research reports
Issue:
Volume 4:Issue 2(2015)
Page Start:
72
Record Type:
Journal Article
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