BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

308 related articles for article (PubMed ID: 34374989)

  • 1. Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
    Saleh S; Beyyumi E; Al Kaabi A; Hertecant J; Barakat D; Al Dhaheri NS; Al-Gazali L; Al Shamsi A
    Clin Genet; 2021 Nov; 100(5):573-600. PubMed ID: 34374989
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
    Al-Shamsi A; Hertecant JL; Souid AK; Al-Jasmi FA
    Orphanet J Rare Dis; 2016 Jul; 11(1):94. PubMed ID: 27391121
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.
    Elsayed O; Al-Shamsi A
    Mol Genet Genomic Med; 2022 Nov; 10(11):e2052. PubMed ID: 36056583
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
    Ben-Rebeh I; Hertecant JL; Al-Jasmi FA; Aburawi HE; Al-Yahyaee SA; Al-Gazali L; Ali BR
    Genet Test Mol Biomarkers; 2012 May; 16(5):366-71. PubMed ID: 22106832
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.
    Tlili A; Mahfood M; Al Mutery A; Chouchen J
    Hum Genomics; 2024 Jun; 18(1):59. PubMed ID: 38844983
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
    Wu R; Li X; Meng Z; Li P; He Z; Liang L
    Orphanet J Rare Dis; 2024 May; 19(1):205. PubMed ID: 38764027
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
    Moudi M; Vahidi Mehrjardi MY; Hozhabri H; Metanat Z; Kalantar SM; Taheri M; Ghasemi N; Dehghani M
    J Clin Lab Anal; 2022 Feb; 36(2):e24241. PubMed ID: 35019165
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
    Reuter MS; Tawamie H; Buchert R; Hosny Gebril O; Froukh T; Thiel C; Uebe S; Ekici AB; Krumbiegel M; Zweier C; Hoyer J; Eberlein K; Bauer J; Scheller U; Strom TM; Hoffjan S; Abdelraouf ER; Meguid NA; Abboud A; Al Khateeb MA; Fakher M; Hamdan S; Ismael A; Muhammad S; Abdallah E; Sticht H; Wieczorek D; Reis A; Abou Jamra R
    JAMA Psychiatry; 2017 Mar; 74(3):293-299. PubMed ID: 28097321
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical whole exome sequencing in child neurology practice.
    Srivastava S; Cohen JS; Vernon H; Barañano K; McClellan R; Jamal L; Naidu S; Fatemi A
    Ann Neurol; 2014 Oct; 76(4):473-83. PubMed ID: 25131622
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
    Yang Y; Muzny DM; Reid JG; Bainbridge MN; Willis A; Ward PA; Braxton A; Beuten J; Xia F; Niu Z; Hardison M; Person R; Bekheirnia MR; Leduc MS; Kirby A; Pham P; Scull J; Wang M; Ding Y; Plon SE; Lupski JR; Beaudet AL; Gibbs RA; Eng CM
    N Engl J Med; 2013 Oct; 369(16):1502-11. PubMed ID: 24088041
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
    Al-Dewik N; Mohd H; Al-Mureikhi M; Ali R; Al-Mesaifri F; Mahmoud L; Shahbeck N; El-Akouri K; Almulla M; Al Sulaiman R; Musa S; Al-Marri AA; Richard G; Juusola J; Solomon BD; Alkuraya FS; Ben-Omran T
    Am J Med Genet A; 2019 Jun; 179(6):927-935. PubMed ID: 30919572
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.
    al-Gazali LI; Dawodu AH; Sabarinathan K; Varghese M
    J Med Genet; 1995 Jan; 32(1):7-13. PubMed ID: 7897633
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular findings among patients referred for clinical whole-exome sequencing.
    Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM
    JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
    Philips AK; Pinelli M; de Bie CI; Mustonen A; Määttä T; Arts HH; Wu K; Roepman R; Moilanen JS; Raza S; Varilo T; Scala G; Cocozza S; Gilissen C; van Gassen KL; Järvelä I
    Clin Genet; 2017 Jan; 91(1):100-105. PubMed ID: 27311568
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
    Khan AO
    Retina; 2020 Sep; 40(9):1829-1837. PubMed ID: 31725702
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Spectrum of Inborn Errors of Immunity in the United Arab Emirates: 5 Year Experience in a Tertiary Center.
    Shendi HM; Al Kuwaiti AA; Al Dhaheri AD; Al-Hammadi S
    Front Immunol; 2022; 13():837243. PubMed ID: 35173743
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center.
    Al Kuwaiti AA; Al Dhaheri AD; Al Hassani M; Ruszczak Z; Alrustamani A; Abuhammour W; El Ghazali G; Al-Hammadi S; Shendi HM
    Front Immunol; 2023; 14():1228161. PubMed ID: 38022624
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
    Charng WL; Karaca E; Coban Akdemir Z; Gambin T; Atik MM; Gu S; Posey JE; Jhangiani SN; Muzny DM; Doddapaneni H; Hu J; Boerwinkle E; Gibbs RA; Rosenfeld JA; Cui H; Xia F; Manickam K; Yang Y; Faqeih EA; Al Asmari A; Saleh MA; El-Hattab AW; Lupski JR
    BMC Med Genomics; 2016 Jul; 9(1):42. PubMed ID: 27435318
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
    Kaur P; do Rosario MC; Hebbar M; Sharma S; Kausthubham N; Nair K; A S; Bhat Y R; Lewis LES; Nampoothiri S; Patil SJ; Suresh N; Bijarnia Mahay S; Dua Puri R; Pai S; Kaur A; Kc R; Kamath N; Bajaj S; Kumble A; Shetty R; Shenoy R; Kamate M; Shah H; Muranjan MN; Bl Y; Avabratha KS; Subramaniam G; Kadavigere R; Bielas S; Girisha KM; Shukla A
    Clin Genet; 2021 Nov; 100(5):542-550. PubMed ID: 34302356
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
    Al-Gazali L; Ali BR
    Hum Mutat; 2010 May; 31(5):505-20. PubMed ID: 20437613
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.