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Journal Abstract Search

74 related items for PubMed ID: 8723078

  • 1. Evolution of the bone dysplasia family.
    Horton WA.
    Am J Med Genet; 1996 May 03; 63(1):4-6. PubMed ID: 8723078
    [No Abstract] [Full Text] [Related]

  • 2. Cardiac malformation in two infants with hypochondrogenesis.
    Potocki L, Abuelo DN, Oyer CE.
    Am J Med Genet; 1995 Nov 20; 59(3):295-9. PubMed ID: 8599352
    [Abstract] [Full Text] [Related]

  • 3. [Fatal nanism: 3 different entities].
    Escrivá Tomás P, Clemente Yago F, López Peña LF, Cidras Pidre M, Orts Serrano F, Serrano Martínez JL, Jiménez Cobo B.
    An Esp Pediatr; 1991 Apr 20; 34(4):305-9. PubMed ID: 2069281
    [Abstract] [Full Text] [Related]

  • 4. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
    Briggs MD, Chapman KL.
    Hum Mutat; 2002 May 20; 19(5):465-78. PubMed ID: 11968079
    [Abstract] [Full Text] [Related]

  • 5. [Classification of several osteopathies of the evolutive age].
    Nigro N.
    Minerva Pediatr; 1968 Aug 25; 20(34):1703-7. PubMed ID: 4988848
    [No Abstract] [Full Text] [Related]

  • 6. Achondrogenesis: new nosology with evidence of genetic heterogeneity.
    Whitley CB, Gorlin RJ.
    Radiology; 1983 Sep 25; 148(3):693-8. PubMed ID: 6878687
    [Abstract] [Full Text] [Related]

  • 7.
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  • 8. [Lethal genotypic osteochondrodysplasias. Presentation of 3 cases].
    Panero C, Nori Bufalini G, Pedemonte Gori F, Pierro U, Pavari E.
    Minerva Pediatr; 1977 May 05; 29(16):1117-32. PubMed ID: 875993
    [No Abstract] [Full Text] [Related]

  • 9. Probable case of achondroplasia-hypochondroplasia compound.
    Kelly TE.
    Birth Defects Orig Artic Ser; 1974 May 05; 10(12):360-1. PubMed ID: 4461068
    [No Abstract] [Full Text] [Related]

  • 10.
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  • 11. A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
    Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R.
    Am J Med Genet; 1996 May 03; 63(1):144-7. PubMed ID: 8723100
    [Abstract] [Full Text] [Related]

  • 12. Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia.
    Günthard J, Fliegel C, Ohnacker H, Rutishauser M, Bühler E.
    Clin Genet; 1995 Jul 03; 48(1):35-40. PubMed ID: 7586642
    [Abstract] [Full Text] [Related]

  • 13. Advances in bone dysplasias.
    Spranger J.
    Prog Clin Biol Res; 1982 Jul 03; 103 Pt B():323-32. PubMed ID: 7163228
    [No Abstract] [Full Text] [Related]

  • 14. Osteochondrodysplasias in South Africa.
    Beighton P.
    Am J Med Genet; 1996 May 03; 63(1):7-11. PubMed ID: 8723079
    [Abstract] [Full Text] [Related]

  • 15. [Diagnosis of osteochondrodysplasia with particular reference to radiological examination (author's transl)].
    Winkielman J, Radelicka-Rajszys H.
    Pol Przegl Radiol Med Nukl; 1981 May 03; 45(3):169-72. PubMed ID: 7279720
    [No Abstract] [Full Text] [Related]

  • 16. [Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
    Ezquieta Zubicaray B, Iguacel AO, Varela Junquera JM, Jariego Fente CM, González Gancedo P, Gracia Bouthelier R.
    Med Clin (Barc); 1999 Mar 06; 112(8):290-3. PubMed ID: 10207844
    [Abstract] [Full Text] [Related]

  • 17.
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  • 18. [Primary osteochondrodysplasias: many forms of manifestation and difficult diagnosis].
    Meurer A, Krauspe R.
    Orthopade; 2008 Jan 06; 37(1):7. PubMed ID: 18074116
    [No Abstract] [Full Text] [Related]

  • 19. COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.
    Chen TL, Posey KL, Hecht JT, Vertel BM.
    J Cell Biochem; 2008 Feb 15; 103(3):778-87. PubMed ID: 17570134
    [Abstract] [Full Text] [Related]

  • 20. Recurrence risk for sibs of children with "sporadic" achondroplasia.
    Mettler G, Fraser FC.
    Am J Med Genet; 2000 Jan 31; 90(3):250-1. PubMed ID: 10678665
    [Abstract] [Full Text] [Related]

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