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 *

158 related articles for article (PubMed ID: 38361118)

  • 1. Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
    Choi WJ; Kim SH; Lee SR; Oh SH; Kim SW; Shin HY; Park HJ
    Sci Rep; 2024 Feb; 14(1):3806. PubMed ID: 38361118
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis.
    Hannah WB; Seifert BA; Truty R; Zariwala MA; Ameel K; Zhao Y; Nykamp K; Gaston B
    Lancet Respir Med; 2022 May; 10(5):459-468. PubMed ID: 35051411
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.
    Kandolin M; Pöyhönen M; Jakkula E
    Am J Med Genet A; 2024 Jul; 194(7):e63588. PubMed ID: 38459613
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Global Assessment of Mendelian Stroke Genetic Prevalence in 101 635 Individuals From 7 Ethnic Groups.
    Grami N; Chong M; Lali R; Mohammadi-Shemirani P; Henshall DE; Rannikmäe K; Paré G
    Stroke; 2020 Apr; 51(4):1290-1293. PubMed ID: 32106772
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia.
    Fan S; Zhao T; Sun L
    Orphanet J Rare Dis; 2023 Jan; 18(1):2. PubMed ID: 36604716
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
    Park KS
    Mol Genet Metab Rep; 2021 Jun; 27():100734. PubMed ID: 33717985
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.
    Hanany M; Allon G; Kimchi A; Blumenfeld A; Newman H; Pras E; Wormser O; S Birk O; Gradstein L; Banin E; Ben-Yosef T; Sharon D
    Eur J Hum Genet; 2018 Aug; 26(8):1159-1166. PubMed ID: 29706639
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
    Park KS
    Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34200080
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.
    Hanany M; Yang RR; Lam CM; Beryozkin A; Sundaresan Y; Sharon D
    Transl Vis Sci Technol; 2023 Feb; 12(2):27. PubMed ID: 36795063
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
    Zhao T; Fan S; Sun L
    BMC Genom Data; 2021 Nov; 22(1):50. PubMed ID: 34789164
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases.
    Hanany M; Rivolta C; Sharon D
    Proc Natl Acad Sci U S A; 2020 Feb; 117(5):2710-2716. PubMed ID: 31964843
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.
    Chen LS; Yu CW; Li WJ; Hsieh WC; Li YP
    J Hum Genet; 2024 Apr; 69(3-4):115-118. PubMed ID: 38135707
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Global Prevalence of Hereditary Thrombotic Thrombocytopenic Purpura Determined by Genetic Analysis.
    Seidizadeh O; Cairo A; Mancini I; George JN; Peyvandi F
    Blood Adv; 2024 Jun; ():. PubMed ID: 38935915
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
    Westra D; Schouten MI; Stunnenberg BC; Kusters B; Saris CGJ; Erasmus CE; van Engelen BG; Bulk S; Verschuuren-Bemelmans CC; Gerkes EH; de Geus C; van der Zwaag PA; Chan S; Chung B; Barge-Schaapveld DQCM; Kriek M; Sznajer Y; van Spaendonck-Zwarts K; van der Kooi AJ; Krause A; Schönewolf-Greulich B; de Die-Smulders C; Sallevelt SCEH; Krapels IPC; Rasmussen M; Maystadt I; Kievit AJA; Witting N; Pennings M; Meijer R; Gillissen C; Kamsteeg EJ; Voermans NC
    J Neuromuscul Dis; 2019; 6(2):241-258. PubMed ID: 31127727
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The spectrum of hereditary neuromuscular disorders in the Pakistani population.
    Akbar F; Saleem SM; Khalid E; Ibrahim S; Afroze B; Kirmani S; Khan S
    Am J Med Genet A; 2023 Oct; 191(10):2536-2550. PubMed ID: 37366078
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Next generation sequencing and its application in the diagnostics of neuromuscular diseases.
    Zídková J; Haberlová J; Kramářová T; Fajkusová L
    Cesk Patol; 2021; 57(3):150-153. PubMed ID: 34551563
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
    Zeevi DA; Chung WK; Levi C; Scher SY; Bringer R; Kahan Y; Muallem H; Benel R; Hirsch Y; Weiden T; Ekstein A; Ekstein J
    Mol Genet Genomic Med; 2021 Aug; 9(8):e1756. PubMed ID: 34288589
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
    Gunsel AS; Ergoren MC; Kemal H; Kafshboran HR; Cerit L; Turgay A; Duygu H
    Genes (Basel); 2023 Oct; 14(10):. PubMed ID: 37895316
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.
    Zlotogora J; Patrinos GP; Meiner V
    Genet Med; 2018 Aug; 20(8):867-871. PubMed ID: 29144512
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
    Chakchouk I; Zhang D; Zhang Z; Francioli LC; Santos-Cortez RLP; Schrauwen I; Leal SM
    Eur J Hum Genet; 2019 Sep; 27(9):1456-1465. PubMed ID: 31053783
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.