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■ 略語/展開語 : NS/nonsyndromic

合計出現文献数: 15
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略語:   NS  (>> 共起略語)
展開形:   nonsyndromic
No. 発表年 題目 共起略語
2022 Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis. CH, CHTD, MZ, TD, WES
2021 Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future. AR, HI
2021 Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients. ARE, FH, HLRCC, TXNRD1, ULMs
2020 An Analysis of Hospital Mortality After Cardiac Operations in Children With Down Syndrome. AVSD, BDG, CHD, DS, TOF, VSD
2020 SPECC1L regulates palate development downstream of IRF6. CL/P
2019 Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family. DNA, ID, MR, NS-AR, STS
2018 Academic Achievement Among Children With Nonsyndromic Orofacial Clefts : A Population-Based Study. CL, CP, EOG, OFCs
2018 STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. AR, CNVs, HL, MLPA, QF-PCR
2017 Down syndrome and pediatric obstructive sleep apnea surgery: A national cohort. DS, OSA
10  2017 Nine Novel PAX9 Mutations and a Distinct Tooth Agenesis Genotype-Phenotype. ---
11  2015 Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate. CL/P, GRHL3, IRF6, KLF17
12  2010 CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate. CLP, CP, SNPs
13  2010 Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate. FDRs, OO
14  2009 Effect of a syndromic diagnosis on mandibular size and sagittal position in Robin sequence. Ar-Go, ArGoPg, GoPg, SNA, SNB, SNPg, TmPg
15  2004 Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families. CL/P, TDT