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Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Am J Med Genet B Neuropsychiatr Genet. 2017 Dec;174(8):839-845. doi: 10.1002/ajmg.b.32602. Epub 2017 Oct 14.
Am J Med Genet B Neuropsychiatr Genet. 2017.
PMID: 29031008
Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
Blaesius K, Abbasi AA, Tahir TH, Tietze A, Picker-Minh S, Ali G, Farooq S, Hu H, Latif Z, Khan MN, Kaindl A.
Blaesius K, et al.
Am J Med Genet A. 2018 Nov;176(11):2517-2521. doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5.
Am J Med Genet A. 2018.
PMID: 30289604
No abstract available.
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Altered inhibition and excitation in neocortical circuits in congenital microcephaly.
Zaqout S, Blaesius K, Wu YJ, Ott S, Kraemer N, Becker LL, Rosário M, Rosenmund C, Strauss U, Kaindl AM.
Zaqout S, et al. Among authors: blaesius k.
Neurobiol Dis. 2019 Sep;129:130-143. doi: 10.1016/j.nbd.2019.05.008. Epub 2019 May 15.
Neurobiol Dis. 2019.
PMID: 31102767
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Cutting Edge: FHR-1 Binding Impairs Factor H-Mediated Complement Evasion by the Malaria Parasite Plasmodium falciparum.
Reiss T, Rosa TFA, Blaesius K, Bobbert RP, Zipfel PF, Skerka C, Pradel G.
Reiss T, et al. Among authors: blaesius k.
J Immunol. 2018 Dec 15;201(12):3497-3502. doi: 10.4049/jimmunol.1800662. Epub 2018 Nov 19.
J Immunol. 2018.
PMID: 30455399
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