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PUBMED FOR HANDHELDS

Journal Abstract Search

114 related items for PubMed ID: 33244729

  • 21.
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  • 22. Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
    Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M.
    Bone; 2019 Oct; 127():446-451. PubMed ID: 31325655
    [Abstract] [Full Text] [Related]

  • 23. A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.
    Gregersen PA, McKay V, Walsh M, Brown E, McGillivray G, Savarirayan R.
    Mol Genet Genomic Med; 2020 Jun; 8(6):e1173. PubMed ID: 32304187
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  • 24. Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
    Notarangelo LD.
    J Hum Genet; 2017 Aug; 62(8):737-738. PubMed ID: 28446799
    [No Abstract] [Full Text] [Related]

  • 25.
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  • 26. Blocking COX unlocks response in GHDD.
    Sukumar S, Sasa G.
    Blood; 2023 Mar 30; 141(13):1497-1498. PubMed ID: 36995703
    [No Abstract] [Full Text] [Related]

  • 27. Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.
    Hines SL, Richter JE, Mohammad AN, Mahim J, Atwal PS, Caulfield TR.
    Mol Genet Genomic Med; 2019 Mar 30; 7(3):e566. PubMed ID: 30693671
    [Abstract] [Full Text] [Related]

  • 28. A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.
    Yasin S, Mustafa S, Ayesha A, Latif M, Hassan M, Faisal M, Makitie O, Iqbal F, Naz S.
    Eur J Med Genet; 2020 Aug 30; 63(8):103958. PubMed ID: 32470407
    [Abstract] [Full Text] [Related]

  • 29. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.
    Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, Picard C, De Vernejoul MC, Munnich A, Le Merrer M, Cormier-Daire V.
    Hum Genet; 2007 Apr 30; 121(2):269-73. PubMed ID: 17203301
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  • 30.
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  • 32. [Defective gene causing diastrophic dysplasia has been localized].
    Kaitila I, Hästbacka J, de la Chapelle A, Sistonen P.
    Duodecim; 1991 Apr 30; 107(17):1418-9. PubMed ID: 1365369
    [No Abstract] [Full Text] [Related]

  • 33. A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
    Zhang C, Du C, Ye J, Ye F, Wang R, Luo X, Liang Y.
    BMC Med Genet; 2020 May 29; 21(1):117. PubMed ID: 32471379
    [Abstract] [Full Text] [Related]

  • 34. Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.
    Kohn G, Elrayyes ER, Makadmah I, Rösler A, Grünebaum M.
    J Med Genet; 1987 Jun 29; 24(6):366-9. PubMed ID: 3612708
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  • 37. MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.
    Shyamasundar LG, Loganathan L, Kumar A, Selina A, Madhuri V.
    Indian J Pediatr; 2020 Mar 29; 87(3):227-228. PubMed ID: 31724101
    [No Abstract] [Full Text] [Related]

  • 38. A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.
    Shi YR, Lee CC, Hsu YA, Wang CH, Tsai FJ.
    Hum Hered; 2002 Mar 29; 54(1):54-6. PubMed ID: 12446987
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  • 39.
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  • 40. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
    Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM.
    Hum Mutat; 2015 Oct 29; 36(10):1004-8. PubMed ID: 26183434
    [Abstract] [Full Text] [Related]

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