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Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family.
He C, Jing S, Dai C, Tu C, Tan Z, Du J, Lu GX, Lin G, Zeng S. He C, et al. Among authors: Dai C. Mol Genet Genomic Med. 2019 Jul;7(7):e00709. doi: 10.1002/mgg3.709. Epub 2019 May 22. Mol Genet Genomic Med. 2019. PMID: 31119896 Free PMC article.
RESULTS: Novel heterozygous mutations in TERT (NM_198253.2), c.1796G>A (p.Arg599Gln), c.2839T>C (p.Ser947Pro), and c.3346G>C (p.Glu1116Gln) were identified in the proband. ...
RESULTS: Novel heterozygous mutations in TERT (NM_198253.2), c.1796G>A (p.Arg599Gln), c.2839T>C (p.Ser947Pro), an …
A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China.
Dai CL, He WB, Du J, Tan YQ, Lu GX, Li W. Dai CL, et al. Clin Case Rep. 2017 May 4;5(6):961-967. doi: 10.1002/ccr3.986. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588848 Free PMC article.
We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. ...The cDNA sequencing analysis for the c.423+2dupT variant revealed ski …
We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile mac …
Dapagliflozin does not directly affect human α or β cells.
Dai C, Walker JT, Shostak A, Bouchi Y, Poffenberger G, Hart NJ, Jacobson DA, Calcutt MW, Bottino R, Greiner DL, Shultz LD, McGuinness OP, Dean ED, Powers AC. Dai C, et al. Endocrinology. 2020 May 19:bqaa080. doi: 10.1210/endocr/bqaa080. Online ahead of print. Endocrinology. 2020. PMID: 32428240
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