Prof. Dr. med. Knut Brockmann

 
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  • 2023 Journal Article | 
    ​ ​The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued​
    Schröder, S.; Yigit, G.; Li, Y.; Altmüller, J.; Büttel, H.-M.; Fiedler, B. & Kretzschmar, C. et al.​ (2023) 
    Orphanet Journal of Rare Diseases18(1) art. 101​.​ DOI: https://doi.org/10.1186/s13023-023-02706-5 
    Details  DOI  PMID  PMC 
  • 2022 Journal Article
    ​ ​Hemifacial spasm through changes of cerebrospinal fluid pressure in idiopathic intracranial hypertension​
    Petersen, G. C.; Amirkhizi, M.; Brockmann, K.   & Dibaj, P. ​ (2022) 
    Baylor University Medical Center Proceedings36(1) pp. 114​-115​.​ DOI: https://doi.org/10.1080/08998280.2022.2119544 
    Details  DOI 
  • 2022 Journal Article | 
    ​ ​Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy​
    Döring, J. H.; Saffari, A.; Bast, T.; Brockmann, K. ; Ehrhardt, L.; Fazeli, W. & Janzarik, W. G. et al.​ (2022) 
    Neurology Genetics8(5) art. e200020​.​ DOI: https://doi.org/10.1212/NXG.0000000000200020 
    Details  DOI 
  • 2022 Journal Article | Research Paper | 
    ​ ​Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome​
    Schmidt, J. ; Bremmer, F. ; Brockmann, K. ; Kaulfuß, S.   & Wollnik, B. ​ (2022) 
    Clinical Genetics102(3) art. cge.14174​.​ DOI: https://doi.org/10.1111/cge.14174 
    Details  DOI  PMID  PMC 
  • 2020 Journal Article
    ​ ​Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study​
    Disse, S. C.; Toelle, S. P.; Schroeder, S.; Theiler, M.; Weibel, L.; Broser, P. & Langner, C. et al.​ (2020) 
    Neuroepidemiology54(5) pp. 383​-391​.​ DOI: https://doi.org/10.1159/000508187 
    Details  DOI 
  • 2020 Journal Article
    ​ ​Dopamine-Mediated Yawning-Fatigue Syndrome With Specific Recurrent Initiation and Responsiveness to Opioids​
    Dibaj, P. ; Brockmann, K.   & Gärtner, J. ​ (2020) 
    JAMA Neurology77(2) pp. 254​.​ DOI: https://doi.org/10.1001/jamaneurol.2019.3937 
    Details  DOI 
  • 2020 Journal Article
    ​ ​Bewegungsstörungen bei chronischen Erkrankungen​
    Hoyer-Kuhn, H.; Brockmann, K. ; Hartmann, M. ; Hofmann, C.; Holl-Wieden, A. & Haas, J.-P.​ (2020) 
    Monatsschrift Kinderheilkunde168(8) pp. 693​-702​.​ DOI: https://doi.org/10.1007/s00112-020-00931-x 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM​
    Schröder, S.; Wieland, B.; Ohlenbusch, A. ; Yigit, G. ; Altmüller, J.; Boltshauser, E. & Dörk, T. et al.​ (2020) 
    American Journal of Medical Genetics Part A182(12) pp. 2971​-2975​.​ DOI: https://doi.org/10.1002/ajmg.a.61870 
    Details  DOI 
  • 2020 Journal Article | 
    ​ ​Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity​
    Lazarov, E.; Hillebrand, M.; Schröder, S.; Ternka, K.; Hofhuis, J. ; Ohlenbusch, A.   & Barrantes-Freer, A.  et al.​ (2020) 
    Neurobiology of Disease143 pp. 105012​.​ DOI: https://doi.org/10.1016/j.nbd.2020.105012 
    Details  DOI 
  • 2020 Journal Article | Research Paper | 
    ​ ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​
    Schröder, S.; Li, Y. ; Yigit, G. ; Altmüller, J.; Bader, I.; Bevot, A. & Biskup, S. et al.​ (2020) 
    Genetics in Medicine23(2) pp. 341​-351​.​ DOI: https://doi.org/10.1038/s41436-020-00979-w 
    Details  DOI  PMID  PMC 
  • 2019 Journal Article
    ​ ​Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​
    Pauli, S. ; Altmüller, J.; Schröder, S.; Ohlenbusch, A. ; Dreha-Kulaczewski, S. ; Bergmann, C. & Nürnberg, P. et al.​ (2019) 
    Journal of Medical Genetics56(4) pp. 261​-264​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105470 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain​
    Huang, J.; Estacion, M.; Zhao, P.; Dib-Hajj, F. B.; Schulman, B.; Abicht, A. & Kurth, I. et al.​ (2019) 
    Frontiers in Neuroscience13.​ DOI: https://doi.org/10.3389/fnins.2019.00918 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​Deficient knowledge in adult Turner syndrome care as an incentive to found Turner centers in Germany​
    Kahlert, E.; Blaschke, M.; Brockmann, K. ; Freiberg, C. ; Janssen, O. E; Stahnke, N. & Strik, D. et al.​ (2019) 
    Endocrine Connections8(11) pp. 1483​-1492​.​ DOI: https://doi.org/10.1530/EC-19-0418 
    Details  DOI 
  • 2019 Journal Article
    ​ ​Erosive tooth wear and caries experience in children and adolescents with obesity​
    Tschammler, C. ; Simon, A.; Brockmann, K. ; Röbl, M. & Wiegand, A. ​ (2019) 
    Journal of Dentistry83 pp. 77​-86​.​ DOI: https://doi.org/10.1016/j.jdent.2019.02.005 
    Details  DOI  PMID  PMC 
  • 2017 Journal Article | 
    ​ ​FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants​
    Mitter, D.; Pringsheim, M.; Kaulisch, M.; Plümacher, K. S.; Schröder, S.; Warthemann, R. & Abou Jamra, R. et al.​ (2017) 
    Genetics in Medicine20(1) pp. 98​-108​.​ DOI: https://doi.org/10.1038/gim.2017.75 
    Details  DOI 
  • 2016 Journal Article | Research Paper
    ​ ​Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life​
    Lingen, M. ; Albers, L.; Borchers, M.; Haass, S.; Gärtner, J. ; Schroeder, S. & Goldbeck, L. et al.​ (2016) 
    Clinical Genetics89(2) pp. 258​-266​.​ DOI: https://doi.org/10.1111/cge.12629 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article
    ​ ​TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features​
    Balestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M. J.; Verstreken, P. & Cardon, A. et al.​ (2016) 
    Neurology87(1) pp. 77​-85​.​ DOI: https://doi.org/10.1212/WNL.0000000000002807 
    Details  DOI  PMID  PMC  WoS 
  • 2016 Journal Article | Research Paper
    ​ ​Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients​
    Rosewich, H. ; Dechent, P. ; Krause, C. ; Ohlenbusch, A. ; Brockmann, K.   & Gärtner, J. ​ (2016) 
    Journal of Inherited Metabolic Disease39(6) pp. 869​-876​.​ DOI: https://doi.org/10.1007/s10545-016-9965-6 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper
    ​ ​CHARGE and Kabuki syndromes: a phenotypic and molecular link​
    Schulz, Y.; Freese, L.; Maenz, J.; Zoll, B. ; Voelter, C.; Brockmann, K.   & Boegershausen, N. et al.​ (2014) 
    Human Molecular Genetics23(16) pp. 4396​-4405​.​ DOI: https://doi.org/10.1093/hmg/ddu156 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper
    ​ ​The expanding clinical and genetic spectrum of ATP1A3-related disorders​
    Rosewich, H. ; Ohlenbusch, A. ; Huppke, P. ; Schlotawa, L.; Baethmann, M.; Carrilho, I. & Fiori, S. et al.​ (2014) 
    Neurology82(11) pp. 945​-955​.​ DOI: https://doi.org/10.1212/WNL.0000000000000212 
    Details  DOI  PMID  PMC  WoS 
  • 2014 Journal Article | Research Paper
    ​ ​A novel ATP1A3 mutation with unique clinical presentation​
    Rosewich, H. ; Baethmann, M.; Ohlenbusch, A. ; Gärtner, J.   & Brockmann, K. ​ (2014) 
    Journal of the Neurological Sciences341(1-2) pp. 133​-135​.​ DOI: https://doi.org/10.1016/j.jns.2014.03.034 
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article | Research Paper
    ​ ​Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?​
    Shoukier, M.; Klein, N. ; Auber, B.; Wickert, J.; Schroeder, J.; Zoll, B.   & Burfeind, P.  et al.​ (2013) 
    Clinical Genetics83(1) pp. 53​-65​.​ DOI: https://doi.org/10.1111/j.1399-0004.2012.01850.x 
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article | Research Paper
    ​ ​West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation​
    Banne, E.; Atawneh, O.; Henneke, M.; Brockmann, K. ; Gärtner, J. ; Elpeleg, O. & Edvardson, S.​ (2013) 
    Journal of Medical Genetics50(11) pp. 772​-775​.​ DOI: https://doi.org/10.1136/jmedgenet-2013-101752 
    Details  DOI  PMID  PMC  WoS 
  • 2013 Journal Article
    ​ ​A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females​
    Dreha-Kulaczewski, S. ; Kalscheuer, V.; Tzschach, A.; Hu, H.; Helms, G.; Brockmann, K.   & Weddige, A.  et al.​ (2013) 
    JIMD reports13 pp. 91​-99​.​ DOI: https://doi.org/10.1007/8904_2013_261 
    Details  DOI  PMID  PMC 
  • 2013 Journal Article | Research Paper
    ​ ​Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function​
    Shoukier, M.; Fuchs, S.; Schwaibold, E.; Lingen, M. ; Gärtner, J. ; Brockmann, K.   & Zirn, B.​ (2013) 
    Neuropediatrics44(5) pp. 268​-271​.​ DOI: https://doi.org/10.1055/s-0033-1333874 
    Details  DOI  PMID  PMC  WoS 
  • 2012 Journal Article | Research Paper
    ​ ​Assessment of myelination in hypomyelinating disorders by quantitative MRI​
    Dreha-Kulaczewski, S. F. ; Brockmann, K. ; Henneke, M.; Dechent, P. ; Wilken, B.; Gärtner, J.   & Helms, G.​ (2012) 
    Journal of Magnetic Resonance Imaging36(6) pp. 1329​-1338​.​ DOI: https://doi.org/10.1002/jmri.23774 
    Details  DOI  PMID  PMC  WoS 
  • 2012 Journal Article | Research Paper | 
    ​ ​Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study​
    Rosewich, H. ; Thiele, H.; Ohlenbusch, A. ; Maschke, U.; Altmüller, J.; Frommolt, P. & Zim, B. et al.​ (2012) 
    The Lancet Neurology11(9) pp. 764​-773​.​ DOI: https://doi.org/10.1016/S1474-4422(12)70182-5 
    Details  DOI  PMID  PMC  WoS 
  • 2012 Journal Article | Research Paper | 
    ​ ​Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency​
    Ohlenbusch, A. ; Edvardson, S.; Skorpen, J.; Bjornstad, A.; Saada, A.; Elpeleg, O. & Gärtner, J.  et al.​ (2012) 
    Orphanet Journal of Rare Diseases7 art. 69​.​ DOI: https://doi.org/10.1186/1750-1172-7-69 
    Details  DOI  PMID  PMC  WoS 
  • 2010 Review
    ​ ​Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults​
    Kohlschuetter, A.; Bley, A.; Brockmann, K. ; Gärtner, J. ; Kraegeloh-Mann, I.; Rolfs, A.& Schoels, L.​ (2010)
    Brain and Development, 32​(2) pp. 82​-89​.​
    Elsevier Science Bv. DOI: https://doi.org/10.1016/j.braindev.2009.03.014 
    Details  DOI  PMID  PMC  WoS 
  • 2010 Journal Article | Research Paper
    ​ ​In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency​
    Henneke, M.; Dreha-Kulaczewski, S. F. ; Brockmann, K. ; van der Graaf, M.; Willemsen, M. A.; Engelke, U. & Dechent, P.  et al.​ (2010) 
    NMR in Biomedicine23(5) pp. 441​-445​.​ DOI: https://doi.org/10.1002/nbm.1480 
    Details  DOI  PMID  PMC  WoS 
  • 2010 Journal Article | Research Paper
    ​ ​Polymicrogyria in Fetal Alcohol Syndrome​
    Reinhardt, K.; Mohr, A. ; Gärtner, J. ; Spohr, H.-L. & Brockmann, K. ​ (2010) 
    Birth Defects Research Part A: Clinical and Molecular Teratology88(2) pp. 128​-131​.​ DOI: https://doi.org/10.1002/bdra.20629 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article
    ​ ​Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion​
    Denora, P. S.; Schlesinger, D.; Casali, C.; Kok, F.; Tessa, A.; Boukhris, A. & Azzedine, H. et al.​ (2009) 
    Human Mutation30(3) pp. E500​-E519​.​ DOI: https://doi.org/10.1002/humu.20945 
    Details  DOI  PMID  PMC  WoS 
  • 2009 Journal Article | Research Paper
    ​ ​Unilateral Dilation of Virchow-Robin Spaces in Early Childhood​
    Brockmann, K. ; Groeschel, S.; Dreha-Kulaczewski, S. F. ; Reinhardt, K.; Gärtner, J.   & Dechent, P. ​ (2009) 
    Neuropediatrics40(5) pp. 234​-238​.​ DOI: https://doi.org/10.1055/s-0029-1246158 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper | 
    ​ ​Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe​
    Koehler, K.; Brockmann, K. ; Krumbholz, M.; Kind, B.; Boennemann, C.; Gärtner, J.   & Huebner, A.​ (2008) 
    European Journal of Human Genetics16(12) pp. 1499​-1506​.​ DOI: https://doi.org/10.1038/ejhg.2008.132 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper
    ​ ​tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia​
    Budde, B.; Namavar, Y.; Barth, P. G.; Poll-The, B. T.; Nürnberg, G.; Becker, C. & van Ruissen, F. et al.​ (2008) 
    Nature Genetics40(9) pp. 1113​-1118​.​ DOI: https://doi.org/10.1038/ng.204 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper
    ​ ​Early reduction of total N-acetyl-aspartate-compounds in patients with classical vanishing white matter disease. A long-term follow-up MRS study​
    Dreha-Kulaczewski, S. F. ; Dechent, P. ; Finsterbusch, J.; Brockmann, K. ; Gärtner, J. ; Frahm, J.   & Hanefeld, F. A.​ (2008) 
    Pediatric Research63(4) pp. 444​-449​.​ DOI: https://doi.org/10.1203/01.pdr.0000304934.90198.25 
    Details  DOI  PMID  PMC  WoS 
  • 2008 Journal Article | Research Paper | 
    ​ ​Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations​
    Brockmann, K. ; Dreha-Kulaczewski, S. F. ; Dechent, P. ; Boennemann, C.; Helms, G.; Kyllerman, M. & Brueck, W.  et al.​ (2008) 
    Journal of Neurology255(7) pp. 1049​-1058​.​ DOI: https://doi.org/10.1007/s00415-008-0847-1 
    Details  DOI  PMID  PMC  WoS 
  • 2007 Conference Abstract
    ​ ​Complete recovery of NAA reduction in white matter disorders demonstrated by proton MRS​
    Dreha-Kulaczewski, S. F. ; Dechent, P. ; Helms, G.; Frahm, J. ; Gärtner, J.   & Brockmann, K. ​ (2007)
    ​European Journal of Pediatrics, 166(3) pp. 274​-274. , Max-Planck-Institute for Experimental Medicine, Göttingen.
    New York​: Springer.
    Details  WoS 
  • 2007 Journal Article
    ​ ​DO06 Complete recovery of NAA reduction in white matter disorders demonstrated by serial proton MRS​
    Dreha-Kulaczewski, S. ; Dechent, P. ; Helms, G.; Frahm, J. ; Gaertner, J.   & Brockmann, K. ​ (2007) 
    European Journal of Paediatric Neurology11 pp. 39​-39​.​ DOI: https://doi.org/10.1016/s1090-3798(08)70391-x 
    Details  DOI 
  • 2007 Journal Article | Research Paper
    ​ ​Treatment of epilepsy in Rett syndrome​
    Huppke, P. ; Koehler, K.; Brockmann, K. ; Stettner, G. M. & Gärtner, J. ​ (2007) 
    European Journal of Paediatric Neurology11(1) pp. 10​-16​.​ DOI: https://doi.org/10.1016/j.ejpn.2006.09.003 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI​
    Dreha-Kulaczewski, S. F. ; Dechent, P. ; Helms, G.; Frahm, J. ; Gärtner, J.   & Brockmann, K. ​ (2006) 
    Neuroradiology48(12) pp. 893​-898​.​ DOI: https://doi.org/10.1007/s00234-006-0148-2 
    Details  DOI  PMID  PMC  WoS 
  • 2006 Journal Article | Research Paper
    ​ ​Pediatric multiple sclerosis: Detection of clinically silent lesions by multimodal evoked potentials​
    Pohl, D.; Rostasy, K.; Treiber-Held, S.; Brockmann, K. ; Gärtner, J.   & Hanefeld, F. A.​ (2006) 
    The Journal of Pediatrics149(1) pp. 125​-127​.​ DOI: https://doi.org/10.1016/j.jpeds.2006.01.003 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Visually self-induced seizures sensitive to round objects​
    Brockmann, K. ; Huppke, P. ; Karenfort, M.; Gärtner, J.   & Hoger, C.​ (2005) 
    Epilepsia46(5) pp. 786​-789​.​ DOI: https://doi.org/10.1111/j.1528-1167.2005.54004.x 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Acute motor and sensory axonal neuropathy (AMSAN) in a 15-year-old boy presenting with severe pain and distal muscle weakness​
    Rostásy, K. M.; Huppke, P. ; Beckers, B.; Brockmann, K. ; Degenhardt, V.; Wesche, B. & König, F.  et al.​ (2005) 
    Neuropediatrics36(4) pp. 260​-264​.​ DOI: https://doi.org/10.1055/s-2005-865774 
    Details  DOI  PMID  PMC  WoS 
  • 2005 Journal Article | Research Paper
    ​ ​Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset​
    Brockmann, K. ; Simpson, M. A.; Faber, A.; Bonnernann, C.; Crosby, A. H. & Gärtner, J. ​ (2005) 
    Neuropediatrics36(4) pp. 274​-278​.​ DOI: https://doi.org/10.1055/s-2005-872809 
    Details  DOI  PMID  PMC  WoS 
  • 2004 Journal Article
    ​ ​Actin-related myopathy without any missense mutation in the ACTA1 gene​
    Goebel, H. H.; Brockmann, K. ; Bönnemann, C. G.; Warlo, I.; Hanefeld, F.; Labeit, S. & Durling, H. J. et al.​ (2004) 
    Journal of Child Neurology19(2) pp. 149​-153​.​
    Details  PMID  PMC  WoS 
  • 2004 Journal Article
    ​ ​Stroke-like pattern in DTI and MRS of childhood mitochondrial leukoencephalopathy​
    Brockmann, K. ; Finsterbusch, J.; Schara, U.; Wilichowski, E. ; Frahm, J.   & Hanefeld, F.​ (2004) 
    Neuroradiology46(4) pp. 267​-271​.​ DOI: https://doi.org/10.1007/s00234-004-1181-7 
    Details  DOI  PMID  PMC  WoS 
  • 2003 Journal Article
    ​ ​Muscle ultrasound in Bethlem myopathy​
    Bönnemann, C. G.; Brockmann, K.   & Hanefeld, F.​ (2003) 
    Neuropediatrics34(6) pp. 335​-336​.​
    Details  PMID  PMC  WoS 
  • 2003 Journal Article
    ​ ​Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease​
    Brockmann, K. ; Dechent, P. ; Meins, M.; Haupt, M.; Sperner, J.; Stephani, U. & Frahm, J.  et al.​ (2003) 
    Journal of Neurology250(3) pp. 300​-306​.​ DOI: https://doi.org/10.1007/s00415-003-0995-2 
    Details  DOI  PMID  PMC  WoS 

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