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393 related items for PubMed ID: 33187236

  • 1. Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
    Doll J, Vona B, Schnapp L, Rüschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, Kühlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, Röder T, Dittrich M, Müller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T.
    Genes (Basel); 2020 Nov 11; 11(11):. PubMed ID: 33187236
    [Abstract] [Full Text] [Related]

  • 2. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
    Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S.
    Hum Mutat; 2019 Jan 11; 40(1):53-72. PubMed ID: 30303587
    [Abstract] [Full Text] [Related]

  • 3. Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
    Shafique S, Siddiqi S, Schraders M, Oostrik J, Ayub H, Bilal A, Ajmal M, Seco CZ, Strom TM, Mansoor A, Mazhar K, Shah ST, Hussain A, Azam M, Kremer H, Qamar R.
    PLoS One; 2014 Jan 11; 9(6):e100146. PubMed ID: 24949729
    [Abstract] [Full Text] [Related]

  • 4. Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.
    Sarmadi A, Nasrniya S, Narrei S, Nouri Z, Abtahi H, Tabatabaiefar MA.
    Mol Biol Rep; 2020 Jul 11; 47(7):5355-5364. PubMed ID: 32623615
    [Abstract] [Full Text] [Related]

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  • 6. Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.
    Noman M, Ishaq R, Bukhari SA, Ahmed ZM, Riazuddin S.
    Genes (Basel); 2019 Dec 10; 10(12):. PubMed ID: 31835641
    [Abstract] [Full Text] [Related]

  • 7. Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families.
    Mahmood U, Bukhari SA, Ali M, Ahmed ZM, Riazuddin S.
    Biomed Res Int; 2021 Dec 10; 2021():5584788. PubMed ID: 33997018
    [Abstract] [Full Text] [Related]

  • 8. Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.
    Shadab M, Abbasi AA, Ejaz A, Ben-Mahmoud A, Gupta V, Kim HG, Vona B.
    J Cell Mol Med; 2024 Apr 10; 28(8):e18119. PubMed ID: 38534090
    [Abstract] [Full Text] [Related]

  • 9. Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
    Mohseni M, Babanejad M, Booth KT, Jamali P, Jalalvand K, Davarnia B, Ardalani F, Khoshaeen A, Arzhangi S, Ghodratpour F, Beheshtian M, Jahanshad F, Otukesh H, Bahrami F, Seifati SM, Bazazzadegan N, Habibi F, Behravan H, Mirzaei S, Keshavarzi F, Nikzat N, Mehrjoo Z, Thiele H, Nothnagel M, Azaiez H, Smith RJ, Kahrizi K, Najmabadi H.
    Clin Genet; 2021 Jul 10; 100(1):59-78. PubMed ID: 33713422
    [Abstract] [Full Text] [Related]

  • 10. Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss.
    Liang P, Chen F, Wang S, Li Q, Li W, Wang J, Chen J, Zha D.
    Int J Pediatr Otorhinolaryngol; 2021 Sep 10; 148():110817. PubMed ID: 34265623
    [Abstract] [Full Text] [Related]

  • 11. Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.
    Zafar S, Shahzad M, Ishaq R, Yousaf A, Shaikh RS, Akram J, Ahmed ZM, Riazuddin S.
    Genes (Basel); 2020 Aug 22; 11(9):. PubMed ID: 32842620
    [Abstract] [Full Text] [Related]

  • 12. Spectrum of genetic variants in bilateral sensorineural hearing loss.
    Ali A, Tabouni M, Kizhakkedath P, Baydoun I, Allam M, John A, Busafared F, Alnuaimi A, Al-Jasmi F, Alblooshi H.
    Front Genet; 2024 Aug 22; 15():1314535. PubMed ID: 38410152
    [Abstract] [Full Text] [Related]

  • 13. The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.
    Hofrichter MAH, Mojarad M, Doll J, Grimm C, Eslahi A, Hosseini NS, Rajati M, Müller T, Dittrich M, Maroofian R, Haaf T, Vona B.
    BMC Med Genet; 2018 May 18; 19(1):81. PubMed ID: 29776397
    [Abstract] [Full Text] [Related]

  • 14. Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.
    AitRaise I, Amalou G, Bakhchane A, Bousfiha A, Abdelghaffar H, Majida C, Bonnet C, Petit C, Barakat A.
    Biochem Genet; 2024 Jun 18; 62(3):1914-1924. PubMed ID: 37777971
    [Abstract] [Full Text] [Related]

  • 15. Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
    Zhou Y, Tariq M, He S, Abdullah U, Zhang J, Baig SM.
    BMC Med Genet; 2020 Jul 18; 21(1):151. PubMed ID: 32682410
    [Abstract] [Full Text] [Related]

  • 16. Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred.
    Saleem IB, Masoud MS, Qasim M, Ali M, Ahmed ZM.
    Genes (Basel); 2021 Nov 30; 12(12):. PubMed ID: 34946889
    [Abstract] [Full Text] [Related]

  • 17. Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.
    Ramzan M, Bashir R, Salman M, Mujtaba G, Sobreira N, Witmer PD, Baylor-Hopkins Center for Mendelian Genomics, Naz S.
    Sci Rep; 2020 Jul 17; 10(1):11902. PubMed ID: 32681043
    [Abstract] [Full Text] [Related]

  • 18. Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
    Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H.
    J Med Genet; 2015 Dec 17; 52(12):823-9. PubMed ID: 26445815
    [Abstract] [Full Text] [Related]

  • 19. PDZD7 and hearing loss: More than just a modifier.
    Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ.
    Am J Med Genet A; 2015 Dec 17; 167A(12):2957-65. PubMed ID: 26416264
    [Abstract] [Full Text] [Related]

  • 20. A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
    Bakhchane A, Charoute H, Nahili H, Roky R, Rouba H, Charif M, Lenaers G, Barakat A.
    Gene; 2015 Dec 10; 574(1):28-33. PubMed ID: 26226225
    [Abstract] [Full Text] [Related]

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