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Journal Abstract Search

255 related items for PubMed ID: 14284412

  • 1. DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA.
    MCKUSICK VA, ELDRIDGE R, HOSTETLER JA, RUANGWIT U, EGELAND JA.
    Bull Johns Hopkins Hosp; 1965 May; 116():285-326. PubMed ID: 14284412
    [No Abstract] [Full Text] [Related]

  • 2. DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.
    MCKUSICK VA, EGELAND JA, ELDRIDGE R, KRUSEN DE.
    Bull Johns Hopkins Hosp; 1964 Oct; 115():306-36. PubMed ID: 14217223
    [No Abstract] [Full Text] [Related]

  • 3. DWARFISM IN THE AMISH.
    MCKUSICK VA, ELDRIDGE R, HOSTETLER JA, EGELAND JA.
    Trans Assoc Am Physicians; 1964 Oct; 77():151-68. PubMed ID: 14275412
    [No Abstract] [Full Text] [Related]

  • 4. THE DISTRIBUTION OF CERTAIN GENES IN THE OLD ORDER AMISH.
    MCKUSICK VA, HOSTETLER JA, EGELAND JA, ELDRIDGE R.
    Cold Spring Harb Symp Quant Biol; 1964 Oct; 29():99-114. PubMed ID: 14280821
    [No Abstract] [Full Text] [Related]

  • 5. Ellis-van Creveld syndrome and the Amish.
    McKusick VA.
    Nat Genet; 2000 Mar; 24(3):203-4. PubMed ID: 10700162
    [No Abstract] [Full Text] [Related]

  • 6. Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia.
    Nguyen A, Martin Silva N, de Boysson H, Damaj G, Aouba A.
    Swiss Med Wkly; 2018 Mar; 148():w14606. PubMed ID: 29688570
    [Abstract] [Full Text] [Related]

  • 7. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.
    Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, Da Silva EO, Ortiz De Luna RI, Francomano CA.
    Genomics; 1996 Jul 01; 35(1):1-5. PubMed ID: 8661097
    [Abstract] [Full Text] [Related]

  • 8. Radiographic diagnosis of neonatal short-limbed dwarfism.
    Saldino RM.
    Med Radiogr Photogr; 1973 Jul 01; 49(3):61-95. PubMed ID: 4775541
    [No Abstract] [Full Text] [Related]

  • 9. Lethal short-limbed chondrodysplasia in early infancy.
    Yang SS, Heidelberger KP, Brough AJ, Corbett DP, Bernstein J.
    Perspect Pediatr Pathol; 1976 Jul 01; 3():1-40. PubMed ID: 972830
    [Abstract] [Full Text] [Related]

  • 10. Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child.
    Harris RE, Baehner RL, Gleiser S, Weaver DD, Hodes ME.
    Am J Med Genet; 1981 Jul 01; 8(3):291-7. PubMed ID: 6972168
    [No Abstract] [Full Text] [Related]

  • 11. [PERIPHERAL DYSOSTOSIS AND THE "CONE" EPIPHYSIS].
    SANDOMENICO C.
    Radiol Med; 1964 Aug 01; 50():736-49. PubMed ID: 14191640
    [No Abstract] [Full Text] [Related]

  • 12. ROENTGEN OBSERVATIONS IN FAMILIAL METAPHYSEAL DYSOSTOSIS.
    MILLER SM, PAUL LW.
    Radiology; 1964 Oct 01; 83():665-73. PubMed ID: 14227699
    [No Abstract] [Full Text] [Related]

  • 13. [METAPHYSIAL DYSOSTOSIS AND MODIFICATIONS OF THE HAIR. A NEW (?) SYNDROME OF AUTOSOMAL RECESSIVE TRANSMISSION].
    MCKUSICK VA.
    Presse Med (1893); 1964 Mar 25; 72():907-8. PubMed ID: 14119743
    [No Abstract] [Full Text] [Related]

  • 14. DIASTROPHIC DWARFISM. A LITTLE KNOWN DISEASE ENTITY.
    PAUL SS, RAO PL, MULLICK P, SAIGAL S.
    Clin Pediatr (Phila); 1965 Feb 25; 4():95-101. PubMed ID: 14256044
    [No Abstract] [Full Text] [Related]

  • 15. A differential diagnosis of achondroplasia.
    Silverman FN.
    Radiol Clin North Am; 1968 Aug 25; 6(2):223-37. PubMed ID: 5667498
    [No Abstract] [Full Text] [Related]

  • 16. REPORT OF A FAMILY WITH RESISTANT RICKETS AND A DISCUSSION OF VITAMIN D AS A THERAPEUTIC AGENT.
    WRIGHT DG, DICKSON DD.
    J Int Coll Surg; 1964 Nov 25; 42():494-503. PubMed ID: 14210813
    [No Abstract] [Full Text] [Related]

  • 17. [Morphological and biochemical study of growth cartilage in osteochondrodysplasias].
    Stanescu V, Stanescu R, Maroteaux P.
    Arch Fr Pediatr; 1977 Mar 25; 34 Suppl 1():I-LXXX. PubMed ID: 70194
    [No Abstract] [Full Text] [Related]

  • 18. The genetics of short stature.
    Scott CI.
    Prog Med Genet; 1972 Mar 25; 8():243-99. PubMed ID: 4259833
    [No Abstract] [Full Text] [Related]

  • 19. The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.
    Iqbal M, Muhammad N, Ali SA, Kostjukovits S, Mäkitie O, Naz S.
    Clin Dysmorphol; 2017 Apr 25; 26(2):121-123. PubMed ID: 27740950
    [No Abstract] [Full Text] [Related]

  • 20. Radiologic changes in infancy in McKusick cartilage hair hypoplasia.
    Glass RB, Tifft CJ.
    Am J Med Genet; 1999 Oct 08; 86(4):312-5. PubMed ID: 10494084
    [Abstract] [Full Text] [Related]

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