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 *

191 related articles for article (PubMed ID: 33423266)

  • 21. [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]  

  • 22. [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]  

  • 23. [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]  

  • 24. [Analysis of genetic variants in four children with congenital hyperinsulinemia].
    Lin L; Shen F; Yang Q; Yi S; Qin Z; Zhang Q; Luo J; Gao X; He S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):635-638. PubMed ID: 34247366
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome].
    Wang Y; Niu B; Li R; Xie J; Li X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1220-1223. PubMed ID: 34839511
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Clinical characteristics and genetic analysis of a fetus with Melnick-Needles syndrome due to variant of FLNA gene].
    Zou J; Zhang Y; Liu Y; Xue A; Yan L; Li H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):582-587. PubMed ID: 37102294
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity.
    Yao Y; Qiu L; Wei X; Chen J; Choy KW; Zheng G; Yang T; Li S; Yang F
    Cell Biochem Funct; 2024 Jun; 42(4):e4034. PubMed ID: 38715189
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [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]  

  • 29. [Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene].
    Zhao G; Zhao X; Zhao X; Wang C; Jiao Z; Li Q; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1236-1240. PubMed ID: 37730223
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Analysis of PROC gene variant in a Chinese pedigree affected with hereditary protein C deficiency].
    Chen Y; Shi J; Huang X; Sheng A; Lu C; Zhu M; Wang Q; Wang M; Wang D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1233-1237. PubMed ID: 36317209
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Prenatal molecular diagnosis of a severe type of L1 syndrome (X-linked hydrocephalus).
    Yamasaki M; Nonaka M; Suzumori N; Nakamura H; Fujita H; Namba A; Kamei Y; Yamada T; Pooh RK; Tanemura M; Sudo N; Nagasaka M; Yoshioka E; Shofuda T; Kanemura Y
    J Neurosurg Pediatr; 2011 Oct; 8(4):411-6. PubMed ID: 21961551
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].
    Zhang B; Xiang G; Xiang S; Zhang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):556-560. PubMed ID: 38684300
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Resistance to thyroid hormone syndrome due to p.Cys446Ser variant of THRbeta gene in a pedigree].
    Sun S; Ding Y; Kong Y; Wang F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):838-840. PubMed ID: 34487525
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Analysis of MVK gene variant in a child with high IgD syndrome caused by mevalonate kinase deficiency].
    Wang J; Wei X; Tao Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):413-416. PubMed ID: 35446978
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
    Marx M; Diestel S; Bozon M; Keglowich L; Drouot N; Bouché E; Frebourg T; Minz M; Saugier-Veber P; Castellani V; Schäfer MK
    Neurogenetics; 2012 Feb; 13(1):49-59. PubMed ID: 22222883
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Analysis of novel compound heterozygous variants of the GJA8 gene in a child with congenital cataract].
    Li R; Xu P; Zou Y; Li J; Gao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1262-1265. PubMed ID: 36317215
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with microphthalmia/coloboma and skeletal dysplasia syndrome due to variant of MAB21L2 gene].
    Tang W; Bai Z; Jiang B; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):854-858. PubMed ID: 35929935
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Genetic analysis of a Chinese pedigree affected with Mucopolysaccharidosis type ⅢA].
    Zuo H; Li Y; Cui Y; Zhang J; Shen C; Zhu W; Du C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Apr; 40(4):452-457. PubMed ID: 36972941
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Analysis of a pedigree affected with propionic acidemia by trio whole exome sequencing].
    Yang Y; Liu Y; Chen J; Luo H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul; 37(7):751-754. PubMed ID: 32619257
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Analysis of a child with holoprosencephaly due to variant of SIX3 gene].
    Zeng H; Xiao Z; Xu Y; Qian W; Pan W; Zhao D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):656-658. PubMed ID: 34247371
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.