Dr. med. Julia Schmidt

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unigoe
 

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  • 2022 | Journal Article | 
    ​ ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​
    Schmidt, J. ; Dreha-Kulaczewski, S. ; Zafeiriou, M. P. ; Schreiber, M.-K.; Wilken, B.; Funke, R. & Neuhofer, C. M. et al.​ (2022) 
    Frontiers in Cell and Developmental Biology, 10.​ DOI: https://doi.org/10.3389/fcell.2022.1025332 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​
    Bögershausen, N.; Krawczyk, H. E.; Jamra, R. A.; Lin, S.; Yigit, G. ; Hüning, I. & Polo, A. M. et al.​ (2022) 
    Human Mutation, 43(10) pp. 1454​-1471​.​ DOI: https://doi.org/10.1002/humu.24430 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article
    ​ ​Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis​
    Boschann, F.; Cogulu, M. Ö.; Pehlivan, D.; Balachandran, S.; Vallecillo-Garcia, P.; Grochowski, C. M. & Hansmeier, N. R. et al.​ (2022) 
    Genetics in Medicine, 24(10) pp. 2187​-2193​.​ DOI: https://doi.org/10.1016/j.gim.2022.07.012 
    ​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 Genetics, 102(3) art. cge.14174​.​ DOI: https://doi.org/10.1111/cge.14174 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | 
    ​ ​Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema​
    Recke, A.; Massalme, E. G.; Jappe, U.; Steinmüller-Magin, L.; Schmidt, J. ; Hellenbroich, Y. & Hüning, I. et al.​ (2019) 
    Clinical and Translational Allergy, 9(1) art. 9​.​ DOI: https://doi.org/10.1186/s13601-019-0247-x 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article
    ​ ​Structure searching methods: general discussion​
    Addicoat, M.; Adjiman, C. S.; Arhangelskis, M.; Beran, G. J. O.; Brandenburg, J. G.; Braun, D. E. & Burger, V. et al.​ (2018) 
    Faraday Discussions, 211 pp. 133​-180​.​ DOI: https://doi.org/10.1039/C8FD90030B 
    ​Details  DOI 
  • 2018 | Journal Article | Overview
    ​ ​Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome​
    Schmidt, J.   & Wollnik, B. ​ (2018) 
    American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 178(4) pp. 398​-406​.​ DOI: https://doi.org/10.1002/ajmg.c.31668 
    ​Details  DOI  PMID  PMC 

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https://publications.goettingen-research-online.de URI: /cris/rp/rp112933
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