University of Social Welfare and Rehabilitation Sciences

University / College


Location: Teheran

ISNI: 000000040612774X

ROR: https://ror.org/05jme6y84

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

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Abstract

Journal

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases (2023) Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AM, et al. Journal article Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly (2022) Kloeckner C, Murray JPF, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, et al. Journal article The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (2021) Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al. Journal article Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (Journal of Molecular Medicine, (2021), 10.1007/s00109-021-02124-9) (2021) Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al. Journal article, Erratum Prospects of third-generation femtosecond laser technology in biological spectromicroscopy (2018) Fattahi H, Fattahi Z, Ghorbani A Journal article ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation (2017) Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, et al. Journal article