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Journal Abstract Search

119 related items for PubMed ID: 837626

  • 1. Cockayne syndrome: clinical study of two patients and neuropathologic findings in one.
    Sugarman GI, Landing BH, Reed WB.
    Clin Pediatr (Phila); 1977 Mar; 16(3):225-32. PubMed ID: 837626
    [No Abstract] [Full Text] [Related]

  • 2. Cockayne syndrome.
    Johnson CF.
    Clin Pediatr (Phila); 1977 Mar; 16(3):232. PubMed ID: 837627
    [No Abstract] [Full Text] [Related]

  • 3. A newly recognized inherited syndrome of dwarfism, craniosynostosis, retinitis pigmentosa and multiple congenital malformations.
    Armendares S, Antillón F, del Castillo V, Jiménez M.
    Birth Defects Orig Artic Ser; 1975 Mar; 11(5):49-53. PubMed ID: 1218234
    [No Abstract] [Full Text] [Related]

  • 4. Seckel syndrome with chromosomal 18 deletion.
    Panigrahi I, Kaur S, Kulkarni K, Das R, Marwaha RK.
    Indian J Pediatr; 2009 Dec; 76(12):1270-1. PubMed ID: 20012807
    [Abstract] [Full Text] [Related]

  • 5. A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.
    Buntinx IM, Lormans JA, Martin JJ, Dumon JE.
    Genet Couns; 1991 Dec; 2(4):237-40. PubMed ID: 1799423
    [No Abstract] [Full Text] [Related]

  • 6. Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.
    Lowry RB, Wood BJ, Cox TA, Hayden MR.
    Am J Med Genet; 1989 Jul; 33(3):341-5. PubMed ID: 2801768
    [Abstract] [Full Text] [Related]

  • 7. Nijmegen breakage syndrome.
    van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C.
    J Med Genet; 1996 Feb; 33(2):153-6. PubMed ID: 8929954
    [Abstract] [Full Text] [Related]

  • 8. A DNA repair defect in a patient with ataxia, mental retardation, and short stature.
    Yamagata T, Momoi MY, Saitoh S, Takadaya K, Sato K.
    Pediatr Neurol; 1998 Apr; 18(4):358-61. PubMed ID: 9588536
    [Abstract] [Full Text] [Related]

  • 9. Necropsy of original case of Lowry's syndrome.
    Dolman CL, Wright VJ.
    J Med Genet; 1978 Jun; 15(3):227-9. PubMed ID: 671489
    [Abstract] [Full Text] [Related]

  • 10. Letter: A newly recognized inherited syndrome of dwarfism, craniosynostosis, retinitis pigmentosa, and multiple congenital malformations.
    Armendares S, Antillon F, Del Castillo V, Jimenez M.
    J Pediatr; 1974 Dec; 85(6):872-3. PubMed ID: 4370943
    [No Abstract] [Full Text] [Related]

  • 11. Genetic disorders associated with postnatal microcephaly.
    Seltzer LE, Paciorkowski AR.
    Am J Med Genet C Semin Med Genet; 2014 Jun; 166C(2):140-55. PubMed ID: 24839169
    [Abstract] [Full Text] [Related]

  • 12. A new PNPLA6 mutation presenting as Oliver McFarlane syndrome.
    Patsi O, De Beaufort C, Kerschen P, Cardillo S, Soehn A, Rautenberg M, Diederich NJ.
    J Neurol Sci; 2018 Sep 15; 392():1-2. PubMed ID: 30097146
    [No Abstract] [Full Text] [Related]

  • 13. [Familial sacro-coccygeal agenesis. Apropos of 6 cases in 2 families].
    Robert J, Pernod J, Bonnet R.
    J Genet Hum; 1974 Mar 15; 22(1):45-60. PubMed ID: 4610092
    [No Abstract] [Full Text] [Related]

  • 14. Cockayne's syndrome. Report of case with necropsy findings.
    Rowlatt U.
    Acta Neuropathol; 1969 Sep 09; 14(1):52-61. PubMed ID: 5820595
    [No Abstract] [Full Text] [Related]

  • 15. Xerodermic idiocy or De Sanctis Cacchione syndrome. A description of an 8-year-old patient with xeroderma pigmentosum, mental retardation, and dwarfism.
    Friedman A, Naveh Y, Haim S.
    Clin Pediatr (Phila); 1973 Jan 09; 12(1):56-8. PubMed ID: 4683062
    [No Abstract] [Full Text] [Related]

  • 16. Prenatal diagnosis of Cockayne syndrome using assay of colony-forming ability in ultraviolet light irradiated cells.
    Sugita T, Ikenaga M, Suehara N, Kozuka T, Furuyama J, Yabuuchi H.
    Clin Genet; 1982 Sep 09; 22(3):137-42. PubMed ID: 7151298
    [No Abstract] [Full Text] [Related]

  • 17. New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.
    Gurrieri F, Sammito V, Bellussi A, Neri G.
    Am J Med Genet; 1992 Oct 01; 44(3):315-20. PubMed ID: 1488978
    [No Abstract] [Full Text] [Related]

  • 18. Brief clinical report: early recognition of the Coffin-Lowry syndrome.
    Wilson WG, Kelly TE.
    Am J Med Genet; 1981 Oct 01; 8(2):215-20. PubMed ID: 7282775
    [Abstract] [Full Text] [Related]

  • 19. [Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].
    Martínez-Frías ML, Cormier-Daire V, Cohn DH, Mendioroz J, Bermejo E, Mansilla E.
    Med Clin (Barc); 2007 Feb 03; 128(4):137-40. PubMed ID: 17288936
    [Abstract] [Full Text] [Related]

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    [No Abstract] [Full Text] [Related]

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