Dr. med. Silke Pauli

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  • 2022 Journal Article | Research Paper | 
    ​ ​Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis​
    Meyer, S.; Kaulfuß, S. ; Zechel, S. ; Kummer, K.; Hosseini, A. S. A. ; Ernst, M. S. & Schmidt, J.  et al.​ (2022) 
    Frontiers in Neurology13.​ DOI: https://doi.org/10.3389/fneur.2022.893605 
    Details  DOI 
  • 2021 Journal Article
    ​ ​CHARGE syndrome and related disorders: A mechanistic link​
    Ufartes, R.; Grün, R.; Salinas, G. ; Sitte, M.; Kahl, F.; Wong, M. T Y & van Ravenswaaij-Arts, C. M A et al.​ (2021) 
    Human Molecular Genetics,.​ DOI: https://doi.org/10.1093/hmg/ddab183 
    Details  DOI 
  • 2020 Journal Article
    ​ ​A Novel Mutation in <b><i>PIGA</i></b> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia​
    Neuhofer, C. M.; Funke, R.; Wilken, B.; Knaus, A.; Altmüller, J.; Nürnberg, P. & Li, Y.  et al.​ (2020) 
    Molecular Syndromology11(1) pp. 30​-37​.​ DOI: https://doi.org/10.1159/000505797 
    Details  DOI 
  • 2020 Journal Article
    ​ ​Using Xenopus to analyze neurocristopathies like Kabuki syndrome​
    Schwenty‐Lara, J.; Pauli, S.   & Borchers, A.​ (2020) 
    genesis59(1-2).​ DOI: https://doi.org/10.1002/dvg.23404 
    Details  DOI 
  • 2020 Journal Article | Research Paper | 
    ​ ​De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome​
    Ufartes, R.; Berger, H.; Till, K.; Salinas, G. ; Sturm, M.; Altmüller, J. & Nürnberg, P. et al.​ (2020) 
    Human Genetics139(11) pp. 1363​-1379​.​ DOI: https://doi.org/10.1007/s00439-020-02175-x 
    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 | Overview | 
    ​ ​Timing-dependent valence reversal: a principle of reinforcement processing and its possible implications​
    Gerber, B. ; König, C. ; Fendt, M.; Andreatta, M.; Romanos, M.; Pauli, P.   & Yarali, A.​ (2019) 
    Current Opinion in Behavioral Sciences26 pp. 114​-120​.​ DOI: https://doi.org/10.1016/j.cobeha.2018.12.001 
    Details  DOI 
  • 2019 Journal Article | 
    ​ ​X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?​
    Carstens, P.-O. ; Schwaibold, E. M. C.; Schregel, K. ; Obermaier, C. D.; Wrede, A.; Zechel, S.   & Pauli, S.  et al.​ (2019) 
    Neurology Genetics5(3) art. e327​.​ DOI: https://doi.org/10.1212/NXG.0000000000000327 
    Details  DOI  PMID  PMC 
  • 2018 Journal Article
    ​ ​Sema3a plays a role in the pathogenesis of CHARGE syndrome​
    Ufartes, R.; Schwenty-Lara, J.; Freese, L.; Neuhofer, C.; Möller, J.; Wehner, P. & van Ravenswaaij-Arts, C. M A et al.​ (2018) 
    Human Molecular Genetics27(8) pp. 1343​-1352​.​ DOI: https://doi.org/10.1093/hmg/ddy045 
    Details  DOI 
  • 2017 Journal Article
    ​ ​Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset​
    Smogavec, M. ; Zschüntzsch, J. ; Kress, W.; Mohr, J.; Hellen, P. ; Zoll, B.   & Pauli, S.  et al.​ (2017) 
    Neurology Genetics3(4) pp. e167​.​ DOI: https://doi.org/10.1212/NXG.0000000000000167 
    Details  DOI 
  • 2017 Journal Article
    ​ ​CHARGEd with neural crest defects​
    Pauli, S. ; Bajpai, R. & Borchers, A.​ (2017) 
    American Journal of Medical Genetics Part C: Seminars in Medical Genetics175(4) pp. 478​-486​.​ DOI: https://doi.org/10.1002/ajmg.c.v175.4 
    Details  DOI 
  • 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 

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