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2,722 results

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Page 1
Recurrent Genomic Alterations in Soft Tissue Perineuriomas.
Carter JM, Wu Y, Blessing MM, Folpe AL, Thorland EC, Spinner RJ, Jentoft ME, Wang C, Baheti S, Niu Z, Mauermann ML, Klein CJ. Carter JM, et al. Among authors: niu z. Am J Surg Pathol. 2018 Dec;42(12):1708-1714. doi: 10.1097/PAS.0000000000001169. Am J Surg Pathol. 2018. PMID: 30303818
Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant.
Puffer RC, Spinner RJ, Bi H, Sharma R, Wang Y, Theis JD, McPhail ED, Poterucha JJ, Niu Z, Klein CJ. Puffer RC, et al. Among authors: niu z. Neurol Genet. 2019 Aug 14;5(5):e351. doi: 10.1212/NXG.0000000000000351. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31517060 Free PMC article. No abstract available.
Expanded genetic insight and clinical experience of DNMT1-complex disorder.
Bi H, Hojo K, Watanabe M, Yee C, Maski K, Saba S, Graff-Radford J, Machulda MM, St Louis EK, Humes IS, Flanagan EP, Nicolau S, Jones DT, Patterson MC, Kotagal S, Raz Y, Niu Z, Li J, Klein CJ. Bi H, et al. Among authors: niu z. Neurol Genet. 2020 Jun 12;6(4):e456. doi: 10.1212/NXG.0000000000000456. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32754641 Free PMC article.
Small Fiber Neuropathy Incidence, Prevalence, Longitudinal Impairments, and Disability.
Johnson SA, Shouman K, Shelly S, Sandroni P, Berini SE, Dyck PJB, Hoffman EM, Mandrekar J, Niu Z, Lamb CJ, Low PA, Singer W, Mauermann ML, Mills J, Dubey D, Staff NP, Klein CJ. Johnson SA, et al. Among authors: niu z. Neurology. 2021 Nov 30;97(22):e2236-e2247. doi: 10.1212/WNL.0000000000012894. Epub 2021 Oct 27. Neurology. 2021. PMID: 34706972 Free PMC article.
Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP.
Chompoopong P, Niu Z, Shouman K, Madigan NN, Sandroni P, Berini SE, Shin AY, Brault JS, Boon AJ, Laughlin RS, Thorland E, Mandrekar J, Klein CJ. Chompoopong P, et al. Among authors: niu z. Muscle Nerve. 2022 Oct;66(4):479-486. doi: 10.1002/mus.27687. Epub 2022 Aug 11. Muscle Nerve. 2022. PMID: 35894586
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D. Kaiwar C, et al. Among authors: niu z. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28963436 Free PMC article. Review.
RYR1 causing distal myopathy.
Laughlin RS, Niu Z, Wieben E, Milone M. Laughlin RS, et al. Among authors: niu z. Mol Genet Genomic Med. 2017 Nov;5(6):800-804. doi: 10.1002/mgg3.338. Epub 2017 Oct 4. Mol Genet Genomic Med. 2017. PMID: 29178655 Free PMC article.
2,722 results