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Ambühl-Stamm, Dieter [Editor]; Bocherens, Suzanne [Contributor]; Korenke, Christoph [Contributor]Früherkennung von Bewegungsstörungen beim Säugling : Neuromotorische Untersuchung und Diagnostik - [1. Auflage]Close
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You can manage bookmarks using lists, please log in to your user account for this.München; Jena: Urban und Fischer, c 1999
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Platte, Petra [Author]; Korenke, Christoph [Author] ; TRIAS - Thieme, Hippokrates, EnkeKetogene Diät bei Epilepsie : wie sie Ihrem Kind hilft - [2. aktualisierte Auflage]Close
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Miceli, Francesco [Author]; Korenke, Christoph [Author]KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismView onlineSchließen
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Published in: EBioMedicine ; 81(2022), 104130, Seite 1-15
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Pringsheim, Milka [Author]; Karch, Stephanie [Author]; Korenke, Christoph [Author]Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− miceView onlineSchließen
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Published in: Annals of Clinical and Translational Neurology ; 6(2019), 4, Seite 655-668
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Kühl, Jörn-Sven [Author]; Kupper, Jana [Author]; Korenke, Christoph [Author]Potential risks to stable long-term outcome of allogeneic hematopoietic stem cell transplantation for children with cerebral X-linked adrenoleukodystrophyView onlineSchließen
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Published in: JAMA network open ; Bd.1, 2018, 3, Artikel-Nr. e180769, insges. 12 S.
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Dohrn, Maike F. [Author]; Kotzaeridou, Urania [Author]; Korenke, Christoph [Author]Frequent genes in rare diseases : panel-based next generation sequencing to disclose causal mutations in hereditary neuropathiesView onlineSchließen
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You can manage bookmarks using lists, please log in to your user account for this.13 September 2017
Published in: Journal of neurochemistry ; 143(2017), 5, Seite 507-522
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Pauly, Martje G. [Author]; Korenke, Christoph [Author]; Diaw, Sokhna Haissatou [Author]The expanding phenotypical spectrum of WARS2-related disorder : four novel cases with a common recurrent variantView onlineSchließen
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Published in: Genes ; 14(2023), 4, Artikel-ID 822, Seite 1-11
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Owczarek-Lipska, Marta [Author]; Markus, Fenja [Author]; Bültmann, Eva [Author]; Korenke, Christoph [Author]; Neidhardt, John [Author]A TARP syndrome phenotype is associated with a novel splicing variant in RBM10View onlineSchließen
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Published in: Genes ; 13(2022), 11, Artikel-ID 2154, Seite 1-13
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Nagy, Vanja [Author]; Hollstein, Ronja [Author]; Pai, Tsung-Pin [Author]; Herde, Michael K. [Author]; Korenke, Christoph [Author]HACE1 deficiency leads to structural and functional neurodevelopmental defectsView onlineSchließen
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Published in: Neurology / Genetics ; Volume 5 (2019), 3, arcticle e330, Seite 1-16
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Vlaskamp, Danique R.M [Author]; Shaw, Benjamin J. [Author]; Burgess, Rosemarie [Author]; Korenke, Christoph [Author]SYNGAP1 encephalopathy : a distinctive generalized developmental and epileptic encephalopathyView onlineSchließen
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Published in: Neurology ; Bd. 92, 2019, 2, Seiten e96-e107
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Markus, Fenja [Author]; Kannengießer, Annika [Author]; Näder, Patricia [Author]; Atigbire, Paul [Author]; Scholten, Alexander [Author]; Vössing, Christine [Author]; Bültmann, Eva [Author]; Korenke, Christoph [Author]; Owczarek-Lipska, Marta [Author]; Neidhardt, John [Author]A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defectsView onlineSchließen
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Published in: Journal of human genetics ; 66(2021), Seite 1159-1167
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Van Damme, Tim [Author]; Gardeitchik, Thatjana [Author]; Mohamed, Miski [Author]; Guerrero-Castillo, Sergio [Author]; Freisinger, Peter [Author]; Guillemyn, Brecht [Author]; Kariminejad, Ariana [Author]; Dalloyaux, Daisy [Author]; Kraaij, Sannevan [Author]; Lefeber, Dirk J. [Author]; Syx, Delfien [Author]; Steyaert, Wouter [Author]; De Rycke, Riet [Author]; Hoischen, Alexander [Author]; Kamsteeg, Erik-Jan [Author]; Wong, Sunnie Y. [Author]; Scherpenzeel, Monique van [Author]; Jamili, Payman [Author]; Brandt, Ulrich [Author]; Nijtmans, Leo [Author]; Korenke, Christoph [Author]; Chung, Brian H.Y [Author]; Mak, Christopher C.Y [Author]; Hausser, Ingrid [Author]; [...]Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa : [erratum]View onlineSchließen
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Published in: The American journal of human genetics ; 107(2020), 2, Seite 374
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Kortüm, Fanny [Author]; Abou Jamra, Rami [Author]; Alawi, Malik [Author]; Korenke, Christoph [Author]Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9View onlineSchließen
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Published in: European journal of human genetics ; 26(2018), 5, Seite 695-708
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Syrbe, Steffen [Author]; Mütze, Ulrike [Author]; Hoffmann, Georg F. [Author]; Korenke, Christoph [Author]Delineating SPTAN1 associated phenotypes : from isolated epilepsy to encephalopathy with progressive brain atrophyView onlineSchließen
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Published in: Brain ; 140(2017), 9, Seite 2322-2336
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Van Damme, Tim [Author]; Haußer-Siller, Ingrid [Author]; Thiel, Christian [Author]; Korenke, Christoph [Author]Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaView onlineSchließen
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Published in: The American journal of human genetics ; 100(2017), 2, Seite 216-227
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Eggermann, Katja [Author]; Meyer, Robert [Author]; Begemann, Matthias [Author]; Dey, Daniela [Author]; Bültmann, Eva [Author]; Kurth, Ingo [Author]; Korenke, Christoph [Author]; Knopp, Cordula [Author]Clonal elimination of the pathogenic allele as diagnostic pitfall in SAMD9L-associated neuropathyView onlineSchließen
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Published in: Genes ; 13(2022), 12, Artikel-ID 2356, Seite 1-7
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Kortüm, Fanny [Author]; Marquardt, Iris [Author]; Alawi, Malik [Author]; Korenke, Christoph [Author]; Spranger, Stephanie [Author]; Meinecke, Peter [Author]; Kutsche, Kerstin [Author]Acute liver failure meets SOPH syndrome : a case report on an intermediate phenotypeView onlineSchließen
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Published in: Pediatrics ; Bd. 139, 2017, 1, Art.-Nr. e20160550, insges. 8 S.
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Keller, Julia [Author]; Gläser, S. [Author]; Ahmad-Anwar, M. [Author]; Zimmer, A. D. [Author]; Kuhn, M. [Author]; Hörer, Steffen [Author]; Korenke, Christoph [Author]; Grothaus, J. [Author]; Ott, H. [Author]; Fischer, J. [Author]Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndromeView onlineSchließen
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Published in: British journal of dermatology ; 184(2021), 6, Seite 1190-1192
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Schlotawa, Lars [Author]; Dierks, Thomas [Author]; Christoph, Sophie [Author]; Cloppenburg, Eva [Author]; Ohlenbusch, Andreas [Author]; Korenke, G. Christoph [Author]; Gärtner, Jutta [Author]Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patientView onlineSchließen
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Published in: JIMD reports ; 49(2019), 1, Seite 48-52
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Salter, Claire G. [Author]; Cai, Yiying [Author]; Lo, Bernice [Author]; Helman, Guy [Author]; Taylor, Henry [Author]; McCartney, Amber [Author]; Leslie, Joseph S [Author]; Accogli, Andrea [Author]; Zara, Federico [Author]; Traverso, Monica [Author]; Fasham, James [Author]; Lees, Joshua A [Author]; Ferla, Matteo P [Author]; Chioza, Barry A [Author]; Wenger, Olivia [Author]; Scott, Ethan [Author]; Cross, Harold E [Author]; Crawford, Joanna [Author]; Warshawsky, Ilka [Author]; Keisling, Matthew [Author]; Agamanolis, Dimitris [Author]; Ward Melver, Catherine [Author]; Cox, Helen [Author]; Elawad, Mamoun [Author]; [...]Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseView onlineSchließen
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Published in: Brain ; 144(2021), 12, Seite 3597-3610