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 *

164 related articles for article (PubMed ID: 37994138)

  • 1. [Analysis of a child with Verheij syndrome due to variant of PUF60 gene].
    Wang H; Sheng M; Qiu W; Zhou L; Niu W; Sun Y; Shen X; Wang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1536-1540. PubMed ID: 37994138
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene].
    Ai Q; Chen Y; Chen S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):222-225. PubMed ID: 36709945
    [TBL] [Abstract][Full Text] [Related]  

  • 3. First report of tethered cord syndrome in a patient with Verheij syndrome.
    Kocaaga A; Yimenicioglu S; Atikel YÖ; Yavuz OÖ
    Ophthalmic Genet; 2023 Aug; 44(4):396-400. PubMed ID: 36134573
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Analysis of CNNM2 gene variant in a child with Hypomagnesemia, seizures, and mental retardation syndrome].
    Wang L; Zhang H; Luo J; Qi F; Liu Y; Zhang K; Gao Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):1004-1008. PubMed ID: 37532502
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.
    Miao M; Wang J; Guo C; Su X; Sun L; Lu S
    Gene; 2024 Mar; 897():148092. PubMed ID: 38110042
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Analysis of clinical features and genetic variant in a neonate with Au-Kline syndrome due to a de novo variant of the HNRNPK gene].
    Chen J; Dai L; Zheng H; Liu G; Zhao Y; Wang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Feb; 40(2):226-229. PubMed ID: 36709946
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Genetic analysis of a child with Multiple congenital anomalies-hypotonia-seizures syndrome 1 due to variant of PIGN gene].
    Wang B; Sui J; Dong J; Zhang X; Han M; Liu S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):565-570. PubMed ID: 38684302
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review].
    Liang Y; Ye J; Wei H; Ye F; Luo XP
    Zhonghua Er Ke Za Zhi; 2018 Aug; 56(8):592-596. PubMed ID: 30078240
    [No Abstract]   [Full Text] [Related]  

  • 9. [Genetic analysis of a child with restricted cardiomyopathy and phenylketonuria and a literature review].
    Wang F; Xiao M; Sun Q; Jia L; Lyu A; Yao X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):990-997. PubMed ID: 37532500
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Analysis of genetic variants in a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism without seizures].
    Tong J; Wang T; Wang L; Yan D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1546-1550. PubMed ID: 37994140
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.
    Hoogenboom A; Falix FA; van der Laan L; Kerkhof J; Alders M; Sadikovic B; van Haelst MM
    Eur J Hum Genet; 2024 Apr; 32(4):435-439. PubMed ID: 38273166
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Analysis of genetic variant in a child with Pitt-Hopkins syndrome].
    Zhu S; Zhang Y; Zhang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1556-1559. PubMed ID: 37994142
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Clinical and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene].
    Li Z; Liu K; Zhao X; Li L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):821-824. PubMed ID: 38946365
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].
    Li Z; Wang Y; Li X; Feng B; Gu S; Yang F; Chang G; Wang J; Wang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):998-1003. PubMed ID: 37532501
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome].
    Li L; Luo S; Mei S; Shang Q; Zhang W; Zhang X; Liu L; Lei Z; Zhang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Oct; 40(10):1280-1283. PubMed ID: 37730231
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene].
    Xiao M; Wang F; Li Y; Yao X; Hou W; He K
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct; 41(10):1249-1254. PubMed ID: 39344622
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].
    Xie B; Fan X; Wei X; Gui B; Wei X; Ma Y; Feng S; Chen Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):234-238. PubMed ID: 38311566
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene].
    Xie Z; Li C; Chen C; Huang B; Liu L; Ao D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):817-820. PubMed ID: 38946364
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
    Wang L; Mao L; Xu H; Sun S; Zuo B; Lu W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):661-667. PubMed ID: 37211999
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
    Fennell AP; Baxter AE; Berkovic SF; Ellaway CJ; Forwood C; Hildebrand MS; Kumble S; McKeown C; Mowat D; Poke G; Rajagopalan S; Regan BM; Scheffer IE; Stark Z; Stutterd CA; Tan TY; Wilkins EJ; Yeung A; Hunter MF
    Am J Med Genet A; 2022 Dec; 188(12):3432-3447. PubMed ID: 36367278
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.