BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

223 related articles for article (PubMed ID: 36972941)

  • 21. [Analysis of genetic variants in a patient with Familial hemophagocytic lymphohistiocytosis].
    Zhang Z; Yu X; Wang Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Mar; 40(3):282-286. PubMed ID: 36854401
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [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]  

  • 23. [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]  

  • 24. [Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene].
    Ren H; Zhao W; Jiang N; Li S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):561-564. PubMed ID: 38684301
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [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]  

  • 26. [Clinical characteristics and genetic analysis of a Chinese pedigree affected with Alström syndrome].
    Bai Z; Li G; Wu Q; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1124-1127. PubMed ID: 37643959
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [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]  

  • 28. [Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].
    Jiang N; Liang S; Miao Y; Li S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):322-325. PubMed ID: 38448022
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [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]  

  • 30. [Genetic analysis of two Chinese pedigrees affected with Hereditary hypofibrinemia due to missense variants].
    Zheng X; Chen Y; Wen M; Jin Y; Zeng M; Jia K; Chen Y; Wang M; Yang L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Mar; 40(3):276-281. PubMed ID: 36854400
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Clinical and genetic analysis of a Chinese patient with Alström syndrome].
    Li J; Gao J; Wang L; Li Y; Zhang M; Pan X; Guo X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):596-600. PubMed ID: 38684308
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Analysis of clinical phenotypes and variants of LDLR gene in two Chinese patients with familial hypercholesterolemia].
    Wang K; Sun T; Zhang X; Zhang Y; Gao H; Ren Y; Li X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Dec; 39(12):1344-1348. PubMed ID: 36453956
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].
    Zhang Q; Feng X; Wang X; Liu F; Zhou B; Zhang C; Wang Y; Shi J; Hao S; Hui L; Yi B
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):467-472. PubMed ID: 38565514
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Amyloidosis cutis dyschromica due to homozygous variants of the GPNMB gene in a Chinese pedigree].
    Sha Y; Li L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):123-126. PubMed ID: 33565062
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease].
    He T; Jiang J; Xiong Y; Yu D; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):711-717. PubMed ID: 37212008
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [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]  

  • 37. [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]  

  • 38. [Analysis of phenotype and MYH7 gene variant in a family of patients with hypertrophic cardiomyopathy].
    Zhao X; Wang B; Zhu X; Yang Q; Liu Y; Shao H; Zuo L; Luo Y; Wang Y; Liu L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Aug; 39(8):873-876. PubMed ID: 35929939
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Genetic diagnosis of a pedigree affected with Usher syndrome type 1D/F].
    Kang H; Zhao K; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):951-954. PubMed ID: 34625930
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Analysis of GNAS gene variant in a Chinese pedigree affected with pseudohypoparathyroidism].
    Li Q; Huang J; Dai X; He J; Li C; Wang Y; Liu H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):31-35. PubMed ID: 36584997
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.