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 *

143 related articles for article (PubMed ID: 34096027)

  • 41. [Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation].
    Gao J; Wang J; Han Y; Deng Q; Wang X; Cai W; Chen Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):35-38. PubMed ID: 34964963
    [TBL] [Abstract][Full Text] [Related]  

  • 42. [Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family].
    Cao J; Li J; Zhang Y; Niu H; Zhou Y; Li Z; Sun B; Li Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Aug; 38(8):765-767. PubMed ID: 34365620
    [TBL] [Abstract][Full Text] [Related]  

  • 43. [Analysis of ANKRD11 gene variant in a family affected with KBG syndrome].
    Wang D; Lai P; Li X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Sep; 37(9):1029-1031. PubMed ID: 32820523
    [TBL] [Abstract][Full Text] [Related]  

  • 44. [Identification of a novel SYNGAP1 mutation in a child with intellectual disability].
    Lu J; Zhang Y; Han C; Zhu J; Wang J; Yao R
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):716-719. PubMed ID: 31302919
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
    Kaymakcalan H; Yarman Y; Goc N; Toy F; Meral C; Ercan-Sencicek AG; Gunel M
    Am J Med Genet A; 2018 Feb; 176(2):421-425. PubMed ID: 29226631
    [TBL] [Abstract][Full Text] [Related]  

  • 46. [Genetic diagnosis of a Chinese pedigree affected with Alazami syndrome].
    He F; Xu S; Li Q; Jiang M; Mao X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1089-1092. PubMed ID: 36184089
    [TBL] [Abstract][Full Text] [Related]  

  • 47. [Analysis of clinical features and genetic variants in a child with autosomal recessive cutis laxa due to variants of ATP6V0A2 gene].
    Zhu R; Wang Q; Ling Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1135-1139. PubMed ID: 36184099
    [TBL] [Abstract][Full Text] [Related]  

  • 48. [Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22].
    Zhang J; Li Y; Luo H; Shen Y; Yuan M; Yang Z; Gan J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar; 39(3):293-296. PubMed ID: 35315038
    [TBL] [Abstract][Full Text] [Related]  

  • 49. [Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].
    Fan L; Li Y; Luo H; Shen Y; Yuan M; Yang Z; Gan J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):397-400. PubMed ID: 35446974
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
    Petrovski S; Küry S; Myers CT; Anyane-Yeboa K; Cogné B; Bialer M; Xia F; Hemati P; Riviello J; Mehaffey M; Besnard T; Becraft E; Wadley A; Politi AR; Colombo S; Zhu X; Ren Z; Andrews I; Dudding-Byth T; Schneider AL; Wallace G; ; Rosen ABI; Schelley S; Enns GM; Corre P; Dalton J; Mercier S; Latypova X; Schmitt S; Guzman E; Moore C; Bier L; Heinzen EL; Karachunski P; Shur N; Grebe T; Basinger A; Nguyen JM; Bézieau S; Wierenga K; Bernstein JA; Scheffer IE; Rosenfeld JA; Mefford HC; Isidor B; Goldstein DB
    Am J Hum Genet; 2016 May; 98(5):1001-1010. PubMed ID: 27108799
    [TBL] [Abstract][Full Text] [Related]  

  • 51. [Clinical and genetic analysis of a child with mental retardation and microcephaly with pontine and cerebellar hypoplasia].
    Wang Z; Li C; Zhao Y; Li L; Lyu Y; Cui H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):985-988. PubMed ID: 34625938
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Case report : a novel ASXL3 gene variant in a Sudanese boy.
    Wu K; Cong Y
    BMC Pediatr; 2021 Dec; 21(1):557. PubMed ID: 34886823
    [TBL] [Abstract][Full Text] [Related]  

  • 53. [Analysis of ARID1B gene variant in a patient with mental retardation and ejaculatory dysfunction].
    Shi R; Xu Y; Zhang J; Chang Y; Liao W; Wang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Sep; 40(9):1146-1149. PubMed ID: 37643963
    [TBL] [Abstract][Full Text] [Related]  

  • 54. [Analysis of a Chinese pedigree with autosomal dominant Charcot-Marie-Tooth disease type 2A2A].
    Zhao D; Li R; Zhao B; Kong J; Chen C; Song J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):181-183. PubMed ID: 33565077
    [TBL] [Abstract][Full Text] [Related]  

  • 55. [Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations].
    Cheng S; Wang Q; Hong X; Chen A; Yuan H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar; 39(3):312-315. PubMed ID: 35315043
    [TBL] [Abstract][Full Text] [Related]  

  • 56. [Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing].
    Lyu Y; Zhao D; Zhang K; Gao M; Ma J; Wang D; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):452-454. PubMed ID: 32219835
    [TBL] [Abstract][Full Text] [Related]  

  • 57. IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations.
    Yang L; Xu DD; Sun CJ; Wu J; Wei HY; Liu Y; Zhang MY; Luo FH
    J Clin Endocrinol Metab; 2018 Nov; 103(11):3939-3944. PubMed ID: 30053089
    [TBL] [Abstract][Full Text] [Related]  

  • 58. [Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome].
    Wang Q; Chen P; Peng Q; Liu J; Huang Y; Tang Z; Liu Y; Yuan H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 May; 37(5):567-569. PubMed ID: 32335888
    [TBL] [Abstract][Full Text] [Related]  

  • 59. A Novel X-Linked Variant of
    Choi MH; Yang JO; Min JS; Lee JJ; Jun SY; Lee YJ; Yoon JY; Jeon SJ; Byeon I; Kang JW; Kim NS
    Genet Test Mol Biomarkers; 2020 Jan; 24(1):54-58. PubMed ID: 31829726
    [No Abstract]   [Full Text] [Related]  

  • 60. [Clinical and genetic analysis of a child with Schaaf-Yang syndrome].
    Luo J; Chen X; Yao H; Yang L; Du T; Li Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):53-56. PubMed ID: 36585001
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.