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Journal Abstract Search

207 related items for PubMed ID: 38649688

  • 1.
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  • 2. Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.
    Ghasemi MR, Sadeghi H, Hashemi-Gorji F, Mirfakhraie R, Gupta V, Ben-Mahmoud A, Bagheri S, Razjouyan K, Salehpour S, Tonekaboni SH, Dianatpour M, Omrani D, Jang MH, Layman LC, Miryounesi M, Kim HG.
    BMC Med Genomics; 2024 Aug 05; 17(1):196. PubMed ID: 39103847
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  • 3. Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.
    Rabia A, Harripaul R, Mikhailov A, Mahmood S, Maqbool S, Vincent JB, Ayub M.
    Genes (Basel); 2022 Sep 11; 13(9):. PubMed ID: 36140801
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  • 4. Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
    Gul H, Shah AH, Harripaul R, Mikhailov A, Prajapati K, Khan E, Ullah F, Zubair M, Ali MZ, Shah AH, Salman S, Khan S, Vincent JB, Khan MA.
    Ann Hum Genet; 2019 Jul 11; 83(4):278-284. PubMed ID: 30868578
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  • 5. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
    Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB.
    Mol Psychiatry; 2018 Apr 11; 23(4):973-984. PubMed ID: 28397838
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  • 7. Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
    Al-Mubarak B, Abouelhoda M, Omar A, AlDhalaan H, Aldosari M, Nester M, Alshamrani HA, El-Kalioby M, Goljan E, Albar R, Subhani S, Tahir A, Asfahani S, Eskandrani A, Almusaiab A, Magrashi A, Shinwari J, Monies D, Al Tassan N.
    Sci Rep; 2017 Jul 18; 7(1):5679. PubMed ID: 28720891
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  • 8. Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.
    Chang YS, Lin CY, Huang HY, Chang JG, Kuo HT.
    Mol Genet Genomic Med; 2019 Dec 18; 7(12):e996. PubMed ID: 31595719
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  • 9. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
    Prasad A, Sdano MA, Vanzo RJ, Mowery-Rushton PA, Serrano MA, Hensel CH, Wassman ER.
    BMC Med Genet; 2018 Mar 20; 19(1):46. PubMed ID: 29554876
    [Abstract] [Full Text] [Related]

  • 10. 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
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  • 11.
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  • 12. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
    Ilyas M, Efthymiou S, Salpietro V, Noureen N, Zafar F, Rauf S, Mir A, Houlden H.
    BMC Med Genet; 2020 Mar 24; 21(1):59. PubMed ID: 32209057
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  • 13. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
    Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA, Undiagnosed Diseases Network,, Eichler EE, Vincent JB, University of Washington Center for Mendelian Genomics (UW-CMG),, Bamshad MJ.
    Genet Med; 2020 Mar 24; 22(3):538-546. PubMed ID: 31723249
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  • 16. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
    Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, Özgör B, Lochmüller A, Nair A, O'Heir E, Lovgren AK, Broad Center for Mendelian Genomics, Maroofian R, Houlden H, Polavarapu K, Roos A, Müller JS, Hathazi D, Chinnery PF, Laurie S, Beltran S, Lochmüller H, Horvath R.
    Brain; 2022 May 24; 145(4):1507-1518. PubMed ID: 34791078
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  • 19. Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
    Kim DS, Burt AA, Ranchalis JE, Wilmot B, Smith JD, Patterson KE, Coe BP, Li YK, Bamshad MJ, Nikolas M, Eichler EE, Swanson JM, Nigg JT, Nickerson DA, Jarvik GP, University of Washington Center for Mendelian Genomics.
    Am J Med Genet B Neuropsychiatr Genet; 2017 Jun 24; 174(4):381-389. PubMed ID: 28332277
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