These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

286 related articles for article (PubMed ID: 33306822)

  • 21. [Genetic testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene].
    Li J; Kang H; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Nov; 40(11):1367-1372. PubMed ID: 37906143
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Analysis of a Chinese pedigree affected with van der Woude syndrome due to variant of IRF6 gene].
    Zhu X; Cao P; Zhu Y; Li J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1517-1520. PubMed ID: 37994134
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].
    Zhang Q; Hao S; Hui L; Zheng L; Wang X; Feng X; Liu F; Chen X; Zhou B; Wang Y; Zhang C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):306-311. PubMed ID: 38448019
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Clinical and genetic analysis of a Chinese pedigree affected with type 2 Long QT syndrome due to variant of KCNH2 gene].
    Yang H; Sun M; Liu J; Chen X; Xu X; Hu J; Yan L; Wu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct; 41(10):1218-1224. PubMed ID: 39344617
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene].
    Peng Z; Zhang C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):825-829. PubMed ID: 38946366
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Analysis of MCCC2 gene variant in a pedigree affected with 3-methylcrotonyl coenzyme A carboxylase deficiency].
    Li R; Xu Z; Zhao D; Zhang Y; Xie Z; Wang C; Zhang Z; Song J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan; 38(1):74-77. PubMed ID: 33423264
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].
    Chen J; Hu C; Ren L; Li J; Lei T; Chen S; Zhao P
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):48-51. PubMed ID: 34964966
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta].
    Zhang Y; Wu X; Liu Q; Yan X; Liu H; Feng D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):821-827. PubMed ID: 37368383
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Genetic analysis of a fetus with Rhizomelic skeletal dysplasia].
    Ding Y; Wang T; Xiang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):844-848. PubMed ID: 38946370
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Genetic analysis of a child with pachygyria due to variant of ADGRG1 gen].
    Song C; Su J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Sep; 41(9):1105-1109. PubMed ID: 39217491
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Analysis of a Chinese pedigree affected with rare heart diseases due to variants of TNNI3 and TAZ genes].
    Xu H; Hu R; Jiang X; Lei C; Huang Y; Wang P; Li X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1246-1251. PubMed ID: 37730225
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Genetic analysis of a pedigree affected with congenital high myopia caused by a novel splice site variant of COL11A1 gene].
    Yu X; Liu Y; Lan F; Li Q; Tang Y; Wang Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):893-896. PubMed ID: 31515784
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome].
    Yan L; Liu Y; Zhang Y; Tian L; Cao J; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):36-41. PubMed ID: 36584998
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene].
    Zeng L; Lin L; Zhang Y; Lin K; Xu Q; Lin C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul; 40(7):802-806. PubMed ID: 37368380
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Analysis of C2ORF71 gene variant in a Chinese patient with retinitis pigmentosa].
    Liu M; Lu Y; Ma Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):52-55. PubMed ID: 34964967
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Genetic analysis of a fetus with cryptophthalmos due to variants of FREM2 gene].
    Chen H; Li S; Gao J; Cui G; Yang T; Zhao X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):606-611. PubMed ID: 38684310
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Canavan disease].
    Sun G; Zhu X; Hu S; Liu L; Wang L; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):859-863. PubMed ID: 35929936
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Variant analysis and prenatal diagnosis for two Chinese pedigrees affected with Spinal muscular atrophy with respiratory distress type 1].
    Li H; Zhu X; Yang Y; Wu X; Li J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):167-173. PubMed ID: 38311554
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Genetic analysis of a Chinese pedigree affected with Congenital coagulation factor XII deficiency due to a c.1A>G start codon variant of F12 gene].
    Ji W; Lin S; Chen J; Jin C; Lin X; Ye Z; Qiu L; Qian D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):547-551. PubMed ID: 37102287
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Identification of TCTN1 gene variants in a fetus with Joubert syndrome 13].
    Xiang J; Zhang L; Ding Y; Wang T
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Aug; 41(8):957-961. PubMed ID: 39097279
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.