Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
Schönauer, Ria, Jin, Wenjun, Findeisen, Christin, Valenzuela, Irene, Devlin, Laura Alice, Murrell, Jill, Bedoukian, Emma C., Pöschla, Linda, Hantmann, Elena, Riedhammer, Korbinian M., Hoefele, Julia, Platzer, Konrad, Biemann, Ronald, Campeau, Philipp M., Münch, Johannes, Heyne, Henrike, Hoffmann, Anne, Ghosh, Adhideb, Sun, Wenfei, Dong, Hua, Noé, Falko, Wolfrum, Christian, Woods, Emily, Parker, Michael J., Neatu, Ruxandra, Le Guyader, Gwenael, Bruel, Ange-Line, Perrin, Laurence, Spiewak, Helena, Missotte, Isabelle, Fourgeaud, Melanie, Michaud, Vincent, Lacombe, Didier, Paolucci, Sarah A., Buchan, Jillian G., Glissmeyer, Margaret, Popp, Bernt, Blüher, Matthias, Sayer, John A., Halbritter, Jan
Published in American journal of human genetics (01.06.2023)
Published in American journal of human genetics (01.06.2023)
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Journal Article
Mass and horizon Dirac observables in effective models of quantum black-to-white hole transition
Bodendorfer, Norbert, Mele, Fabio M, Münch, Johannes
Published in Classical and quantum gravity (06.05.2021)
Published in Classical and quantum gravity (06.05.2021)
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Journal Article
A note on the Hamiltonian as a polymerisation parameter
Bodendorfer, Norbert, Mele, Fabio M, Münch, Johannes
Published in Classical and quantum gravity (23.08.2019)
Published in Classical and quantum gravity (23.08.2019)
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Journal Article
Is limiting curvature mimetic gravity an effective polymer quantum gravity?
Bodendorfer, Norbert, Mele, Fabio M, Münch, Johannes
Published in Classical and quantum gravity (19.10.2018)
Published in Classical and quantum gravity (19.10.2018)
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Journal Article
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
Schönauer, Ria, Baatz, Sebastian, Nemitz-Kliemchen, Melanie, Frank, Valeska, Petzold, Friederike, Sewerin, Sebastian, Popp, Bernt, Münch, Johannes, Neuber, Steffen, Bergmann, Carsten, Halbritter, Jan
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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Journal Article
The diagnostic value of native kidney biopsy in low grade, subnephrotic, and nephrotic range proteinuria: A retrospective cohort study
de Fallois, Jonathan, Schenk, Soeren, Kowald, Jan, Lindner, Tom H, Engesser, Marie, Münch, Johannes, Meigen, Christof, Halbritter, Jan
Published in PloS one (02.09.2022)
Published in PloS one (02.09.2022)
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Journal Article
Extended genomic HLA typing identifies previously unrecognized mismatches in living kidney transplantation
Lehmann, Claudia, Pehnke, Sarah, Weimann, Antje, Bachmann, Anette, Dittrich, Katalin, Petzold, Friederike, Fürst, Daniel, de Fallois, Jonathan, Landgraf, Ramona, Henschler, Reinhard, Lindner, Tom H, Halbritter, Jan, Doxiadis, Ilias, Popp, Bernt, Münch, Johannes
Published in Frontiers in immunology (27.01.2023)
Published in Frontiers in immunology (27.01.2023)
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Journal Article
Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics
de Fallois, Jonathan, Schönauer, Ria, Münch, Johannes, Nagel, Mato, Popp, Bernt, Halbritter, Jan
Published in Frontiers in genetics (25.06.2021)
Published in Frontiers in genetics (25.06.2021)
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Journal Article
Effective quantum extended spacetime of polymer Schwarzschild black hole
Bodendorfer, Norbert, Mele, Fabio M, Münch, Johannes
Published in Classical and quantum gravity (10.10.2019)
Published in Classical and quantum gravity (10.10.2019)
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Journal Article
Generic features of a polymer quantum black hole
Münch, Johannes, Perez, Alejandro, Speziale, Simone, Viollet, Sami
Published in Classical and quantum gravity (06.07.2023)
Published in Classical and quantum gravity (06.07.2023)
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Journal Article
Generic features of a polymer quantum black hole
Münch, Johannes, Perez, Alejandro, Speziale, Simone, Viollet, Sami
Published in Classical and quantum gravity (26.05.2023)
Published in Classical and quantum gravity (26.05.2023)
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Journal Article
Tubular Diseases and Stones Seen From Pediatric and Adult Nephrology Perspectives
Münch, Johannes, Goodyer, Paul R, Wagner, Carsten A
Published in Seminars in nephrology (01.07.2023)
Published in Seminars in nephrology (01.07.2023)
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Journal Article
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease
Ottlewski, Isabel, Münch, Johannes, Wagner, Timo, Schönauer, Ria, Bachmann, Anette, Weimann, Antje, Hentschel, Julia, Lindner, Tom H., Seehofer, Daniel, Bergmann, Carsten, Jamra, Rami Abou, Halbritter, Jan
Published in Kidney international (01.07.2019)
Published in Kidney international (01.07.2019)
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Journal Article
Autochthonous West Nile virus infection outbreak in humans, Leipzig, Germany, August to September 2020
Pietsch, Corinna, Michalski, Dominik, Münch, Johannes, Petros, Sirak, Bergs, Sandra, Trawinski, Henning, Lübbert, Christoph, Liebert, Uwe G
Published in Euro surveillance : bulletin européen sur les maladies transmissibles (19.11.2020)
Published in Euro surveillance : bulletin européen sur les maladies transmissibles (19.11.2020)
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Journal Article
Holographic signatures of resolved cosmological singularities II: numerical investigations
Bodendorfer, Norbert, Mele, Fabio M, Münch, Johannes
Published in Classical and quantum gravity (19.12.2019)
Published in Classical and quantum gravity (19.12.2019)
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Journal Article