BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 38348454)

  • 21. [Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].
    Zhang W; Qi N; Guo L; Wang H; Gao Y; Hou Q; Lou G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):966-972. PubMed ID: 37532496
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Case Report: Chinese female patients with a heterozygous pathogenic
    Cong Y; Jin H; Wu K; Wang H; Wang D
    Front Genet; 2022; 13():900226. PubMed ID: 36046249
    [No Abstract]   [Full Text] [Related]  

  • 23. Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
    Yang Q; Qin Z; Zhang Q; Yi S; Yi S; Luo J
    BMC Med Genomics; 2022 Mar; 15(1):67. PubMed ID: 35321723
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
    Zhang X; Han Y; Yang L; Xu N; Zhu L; Qiu S; Li Y; Xu L; Yu X
    Seizure; 2024 Jan; 114():111-120. PubMed ID: 38134649
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the
    Zhang Q; Yang Q; Zhou X; Qin Z; Yi S; Luo J
    Front Pediatr; 2022; 10():1050023. PubMed ID: 36458135
    [TBL] [Abstract][Full Text] [Related]  

  • 26. De novo
    Sommerville EW; Alston CL; Pyle A; He L; Falkous G; Naismith K; Chinnery PF; McFarland R; Taylor RW
    Neurol Genet; 2017 Oct; 3(5):e187. PubMed ID: 28955726
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification of two novel and one rare mutation in
    Huang C; Luo H; Zeng B; Feng C; Chen J; Yuan H; Huang S; Yang B; Zou Y; Liu Y
    Front Genet; 2023; 14():1290949. PubMed ID: 38179410
    [No Abstract]   [Full Text] [Related]  

  • 28. Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
    Li D; Zhou B; Tian X; Chen X; Wang Y; Hao S; Zhang C; Hui L
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2327. PubMed ID: 38037515
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
    BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report.
    Bozkurt T; Alanay Y; Isik U; Sezerman U
    BMC Med Genomics; 2021 Jul; 14(1):197. PubMed ID: 34332575
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a
    Yang Q; Zhou X; Ling Y; Zhang Q; Yi S; Chen Q; Zhang S; Qin Z; Luo J
    Heliyon; 2024 Mar; 10(6):e27955. PubMed ID: 38524542
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.
    Mohamadian M; Ghandil P; Naseri M; Bahrami A; Momen AA
    J Clin Lab Anal; 2020 Nov; 34(11):e23484. PubMed ID: 33079427
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.
    Zhang Z; Bie X; Chen Z; Liu J; Xie Z; Li X; Xiao M; Zhang Q; Zhang Y; Yang Y; Li D
    BMC Pediatr; 2024 Feb; 24(1):104. PubMed ID: 38341530
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome.
    Sun M; Li Q; Zhang Y; Cai Y; Dong Y; Shu J; Li D; Cai C
    Glob Med Genet; 2024 Jan; 11(1):13-19. PubMed ID: 38229971
    [No Abstract]   [Full Text] [Related]  

  • 35. [Analysis of clinical manifestation and a mosaic frameshift variant of the KMT2D gene in a Chinese patient with Kabuki syndrome].
    Luo J; Wang Q; Cheng S; Chen A; Yuan H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):861-864. PubMed ID: 34487531
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
    Gholizadeh MA; Mohammadi-Sarband M; Fardanesh F; Garshasbi M
    BMC Med Genomics; 2022 Apr; 15(1):78. PubMed ID: 35379233
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A
    Lu G; Ma L; Xu P; Xian B; Wu L; Ding J; He X; Xia H; Ding W; Yang Z; Peng Q
    Front Genet; 2022; 13():840577. PubMed ID: 35432459
    [No Abstract]   [Full Text] [Related]  

  • 38. Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome.
    Luo S; Bi B; Zhang W; Zhou R; Chen W; Zhao P; Huang Y; Yuan L; He X
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1798. PubMed ID: 34469078
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
    Beck DB; Subramanian T; Vijayalingam S; Ezekiel UR; Donkervoort S; Yang ML; Dubbs HA; Ortiz-Gonzalez XR; Lakhani S; Segal D; Au M; Graham JM; Verma S; Waggoner D; Shinawi M; Bönnemann CG; Chung WK; Chinnadurai G
    Neurogenetics; 2019 Aug; 20(3):129-143. PubMed ID: 31041561
    [TBL] [Abstract][Full Text] [Related]  

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