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Journal Abstract Search

299 related items for PubMed ID: 6507477

  • 1.
    ; . PubMed ID:
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  • 2. Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.
    Cantú JM, Hernández A, Ramírez J, Bernal M, Rubio G, Urrusti J, Franco-Vázquez S.
    Birth Defects Orig Artic Ser; 1975; 11(5):91-8. PubMed ID: 1218241
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  • 3.
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  • 4. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
    Leonardi ML, Pai GS, Wilkes B, Lebel RR.
    Am J Med Genet; 2001 Aug 15; 102(3):237-42. PubMed ID: 11484200
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  • 6. Cerebellar hypoplasia, facial dysmorphism and internal abnormalities: a new recessive syndrome?
    Seller MJ, Pal K, Moscoso G, Nicolaides K, Hyett JA.
    Clin Dysmorphol; 1998 Jan 15; 7(1):41-4. PubMed ID: 9546829
    [Abstract] [Full Text] [Related]

  • 7. Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
    Schrander-Stumpel C, de Die-Smulders C, Fryns JP, da Costa J, Bouckaert P.
    Am J Med Genet; 1990 Sep 15; 37(1):133-5. PubMed ID: 2240030
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  • 8. Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?
    Jespers A, Buntinx I, Melis K, Vaerenberg M, Janssens G.
    Am J Med Genet; 1993 Aug 15; 47(2):299-302. PubMed ID: 8213924
    [Abstract] [Full Text] [Related]

  • 9. Holzgreve syndrome: recurrence in sibs.
    Thomas IT, Honore GM, Jewett T, Velvis H, Garber P, Ruiz C.
    Am J Med Genet; 1993 Mar 15; 45(6):767-9. PubMed ID: 8456859
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  • 10. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
    Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH.
    Am J Med Genet; 1994 Jul 15; 51(4):591-7. PubMed ID: 7943045
    [Abstract] [Full Text] [Related]

  • 11. Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?
    Thompson EM, Winter RM, Baraitser M.
    Clin Dysmorphol; 1993 Oct 15; 2(4):301-16. PubMed ID: 7508317
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  • 12. Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.
    Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S.
    Am J Med Genet; 1987 Jan 15; 26(1):45-57. PubMed ID: 3812577
    [Abstract] [Full Text] [Related]

  • 13. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.
    Lubinsky M, Severn C, Rapoport JM.
    Am J Med Genet; 1983 Mar 15; 14(3):461-6. PubMed ID: 6859098
    [Abstract] [Full Text] [Related]

  • 14. Partial duplication of distal 17q.
    Bridge J, Sanger W, Mosher G, Buehler B, Hearty C, Olney A, Fordyce R.
    Am J Med Genet; 1985 Oct 15; 22(2):229-35. PubMed ID: 4050855
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  • 15. Familial holoprosencephaly, heart defects, and polydactyly.
    Hennekam RC, van Noort G, de la Fuente AA.
    Am J Med Genet; 1991 Nov 01; 41(2):258-62. PubMed ID: 1785646
    [Abstract] [Full Text] [Related]

  • 16. von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.
    Lubinsky MS, Kahler SG, Speer IE, Hoyme HE, Kirillova IA, Lurie IW.
    Am J Med Genet; 1994 Sep 01; 52(3):272-8. PubMed ID: 7810558
    [Abstract] [Full Text] [Related]

  • 17. Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former.
    Rakheja D, Wilson GN, Rogers BB.
    Pediatr Dev Pathol; 2003 Sep 01; 6(3):270-7. PubMed ID: 12717589
    [Abstract] [Full Text] [Related]

  • 18. PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.
    Powell CM, Chandra RS, Saal HM.
    Am J Med Genet; 1993 Nov 01; 47(6):807-11. PubMed ID: 8279476
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  • 19. [Fryns syndrome. Report on 3 new cases].
    Alessandri JL, Attali T, Brayer C, Dupuy L, Pilorget H, Ramful D, Samperiz S, Tiran-Rajaofera I, Robin S.
    Arch Pediatr; 2007 Jul 01; 14(7):903-7. PubMed ID: 17442547
    [Abstract] [Full Text] [Related]

  • 20. The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.
    Donnai D, Young ID, Owen WG, Clark SA, Miller PF, Knox WF.
    J Med Genet; 1986 Feb 01; 23(1):64-71. PubMed ID: 3950937
    [Abstract] [Full Text] [Related]

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