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4,319 results
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Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
Hu P, Yuan L, Deng H. Hu P, et al. Mutat Res. 2018 Oct-Dec;778:45-50. doi: 10.1016/j.mrrev.2018.09.002. Epub 2018 Sep 12. Mutat Res. 2018. PMID: 30454682 Review.
Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
Xia H, Huang X, Guo Y, Hu P, He G, Deng X, Xu H, Yang Z, Deng H. Xia H, et al. Among authors: hu p. PLoS One. 2015 Aug 26;10(8):e0136306. doi: 10.1371/journal.pone.0136306. eCollection 2015. PLoS One. 2015. PMID: 26308726 Free PMC article.
A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.
Wu Y, Hu P, Xu H, Yuan J, Yuan L, Xiong W, Deng X, Deng H. Wu Y, et al. Among authors: hu p. J Cell Mol Med. 2016 Dec;20(12):2328-2332. doi: 10.1111/jcmm.12924. Epub 2016 Jul 29. J Cell Mol Med. 2016. PMID: 27469977 Free PMC article.
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
Hu P, Wu S, Yuan L, Lin Q, Zheng W, Xia H, Xu H, Guan L, Deng H. Hu P, et al. J Cell Mol Med. 2017 Jul;21(7):1388-1393. doi: 10.1111/jcmm.13068. Epub 2017 Feb 3. J Cell Mol Med. 2017. PMID: 28157257 Free PMC article.
Genetic analysis of the RIC3 gene in Han Chinese patients with Parkinson's disease.
He D, Hu P, Deng X, Song Z, Yuan L, Yuan X, Deng H. He D, et al. Among authors: hu p. Neurosci Lett. 2017 Jul 13;653:351-354. doi: 10.1016/j.neulet.2017.06.007. Epub 2017 Jun 9. Neurosci Lett. 2017. PMID: 28606768
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder.
Xia H, Hu P, Yuan L, Xiong W, Xu H, Yi J, Yang Z, Deng X, Guo Y, Deng H. Xia H, et al. Among authors: hu p. Mol Med Rep. 2017 Oct;16(4):4241-4246. doi: 10.3892/mmr.2017.7053. Epub 2017 Jul 21. Mol Med Rep. 2017. PMID: 28731162
Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.
Xiao H, Guo Y, Yi J, Xia H, Xu H, Yuan L, Hu P, Yang Z, He Z, Lu H, Deng H. Xiao H, et al. Among authors: hu p. Cell Physiol Biochem. 2018;46(5):1919-1929. doi: 10.1159/000489381. Epub 2018 Apr 26. Cell Physiol Biochem. 2018. PMID: 29719290
Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
Wu Y, Yuan L, Guo Y, Lu A, Zheng W, Xu H, Yang Y, Hu P, Gu S, Wang B, Deng H. Wu Y, et al. Among authors: hu p. J Cell Mol Med. 2018 Nov;22(11):5533-5538. doi: 10.1111/jcmm.13827. Epub 2018 Aug 29. J Cell Mol Med. 2018. PMID: 30160005 Free PMC article.
Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL.
Chen X, Deng S, Xu H, Hou D, Hu P, Yang Y, Wen J, Deng H, Yuan L. Chen X, et al. Among authors: hu p. Neurodegener Dis. 2019;19(1):35-42. doi: 10.1159/000500166. Epub 2019 Jun 18. Neurodegener Dis. 2019. PMID: 31212292
An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder.
Xia H, Huang X, Xu H, Guo Y, Hu P, Deng X, Yang Z, Liu A, Deng H. Xia H, et al. Among authors: hu p. Curr Genomics. 2018 Aug;19(5):370-374. doi: 10.2174/1389202919666171113152951. Curr Genomics. 2018. PMID: 30065612 Free PMC article.
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