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Journal Abstract Search

278 related items for PubMed ID: 17120046

  • 41. Genetics of non-syndromic autosomal recessive mental retardation.
    Afroze B, Chaudhry B.
    J Pak Med Assoc; 2013 Jan; 63(1):106-10. PubMed ID: 23865144
    [Abstract] [Full Text] [Related]

  • 42. Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
    Ropers F, Derivery E, Hu H, Garshasbi M, Karbasiyan M, Herold M, Nürnberg G, Ullmann R, Gautreau A, Sperling K, Varon R, Rajab A.
    Hum Mol Genet; 2011 Jul 01; 20(13):2585-90. PubMed ID: 21498477
    [Abstract] [Full Text] [Related]

  • 43. Frequencies of Six (Five Novel) STR Markers Linked to TUSC3 (MRT7) or NSUN2 (MRT5) Genes Used for Homozygosity Mapping of Recessive Intellectual Disability.
    Ghadami S, Mohammadi HM, Malbin J, Masoodifard M, Sarhaddi AB, Tavakkoly-Bazzaz J, Zeinali S.
    Clin Lab; 2015 Jul 01; 61(8):925-32. PubMed ID: 26427135
    [Abstract] [Full Text] [Related]

  • 44. A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.
    Hancarova M, Babikyan D, Bendova S, Midyan S, Prchalova D, Shahsuvaryan G, Stranecky V, Sarkisian T, Sedlacek Z.
    Mol Genet Genomic Med; 2019 Sep 01; 7(9):e865. PubMed ID: 31334606
    [Abstract] [Full Text] [Related]

  • 45. A novel GBA2 gene missense mutation in spastic ataxia.
    Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.
    Ann Hum Genet; 2014 Jan 01; 78(1):13-22. PubMed ID: 24252062
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  • 46. Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
    Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA.
    Eur J Med Genet; 2014 Oct 01; 57(10):543-51. PubMed ID: 25078763
    [Abstract] [Full Text] [Related]

  • 47. Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes.
    Mhamdi O, Kharrat M, Mrad R, Maazoul F, Chaabouni Bouhamed H.
    Tunis Med; 2011 May 01; 89(5):479-84. PubMed ID: 21557188
    [Abstract] [Full Text] [Related]

  • 48. Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family.
    Dad S, Østergaard E, Wadt KA, Lunding J, Eiberg H, Møller LB.
    Clin Genet; 2014 Apr 01; 85(4):390-2. PubMed ID: 23627725
    [No Abstract] [Full Text] [Related]

  • 49. Pitfalls in homozygosity mapping.
    Miano MG, Jacobson SG, Carothers A, Hanson I, Teague P, Lovell J, Cideciyan AV, Haider N, Stone EM, Sheffield VC, Wright AF.
    Am J Hum Genet; 2000 Nov 01; 67(5):1348-51. PubMed ID: 11007652
    [Abstract] [Full Text] [Related]

  • 50. Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.
    Mehrjoo Z, Akbari MR, Abedini SS, Vaziri S, Kahrizi K, Najmabadi H.
    Arch Iran Med; 2015 Oct 01; 18(10):643-69. PubMed ID: 26443248
    [Abstract] [Full Text] [Related]

  • 51. Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
    Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC.
    Hum Mol Genet; 2014 Aug 01; 23(15):4015-23. PubMed ID: 24626631
    [Abstract] [Full Text] [Related]

  • 52. An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
    Ghasemnejad T, Shekari Khaniani M, Zarei F, Farbodnia M, Mansoori Derakhshan S.
    Int J Pediatr Otorhinolaryngol; 2017 Jun 01; 97():113-126. PubMed ID: 28483220
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  • 58. Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
    Saqib MA, Nikopoulos K, Ullah E, Sher Khan F, Iqbal J, Bibi R, Jarral A, Sajid S, Nishiguchi KM, Venturini G, Ansar M, Rivolta C.
    Sci Rep; 2015 May 06; 5():9965. PubMed ID: 25943428
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