Author Jühlen, Ramona

1 to 2 of 2 Items
  • 2018 | Journal Article | 
    ​ ​Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence​
    Bonnin, E.; Cabochette, P.; Filosa, A.; Jühlen, R.; Komatsuzaki, S.; Hezwani, M. & Dickmanns, A. et al.​ (2018) 
    PLOS Genetics, 14(12) art. e1007845​.​ DOI: https://doi.org/10.1371/journal.pgen.1007845 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article
    ​ ​Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders​
    Ravindran, E.; Jühlen, R.; Vieira-Vieira, C. H; Ha, T.; Salzberg, Y.; Fichtman, B. & Luise-Becker, L. et al.​ (2021) 
    Human Molecular Genetics, 30(22) pp. 2068​-2081​.​ DOI: https://doi.org/10.1093/hmg/ddab160 
    ​Details  DOI  PMID  PMC 

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Göttingen All

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