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Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.
Neuser S, Krey I, Schwan A, Abou Jamra R, Bartolomaeus T, Döring J, Syrbe S, Plassmann M, Rohde S, Roth C, Rehder H, Radtke M, Le Duc D, Schubert S, Bermúdez-Guzmán L, Leal A, Schoner K, Popp B. Neuser S, et al. Among authors: rohde s. Eur J Hum Genet. 2022 Jan;30(1):101-110. doi: 10.1038/s41431-021-00982-y. Epub 2021 Oct 25. Eur J Hum Genet. 2022. PMID: 34697416 Free PMC article.
Comment on: treatment of brain arteriovenous malformations by double arterial catheterization with simultaneous injection of Onyx: retrospective series of 17 patients: Abud DG, Riva R, Nakiri GS, Padovani F, Khawaldeh M, Mounayer C. AJNR Am J Neuroradiol. 2011;32:152-158.
Behrens L, Rohde S. Behrens L, et al. Among authors: rohde s. Clin Neuroradiol. 2011 Jun;21(2):107-9. doi: 10.1007/s00062-011-0079-0. Clin Neuroradiol. 2011. PMID: 21656259 No abstract available.
272 results