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Journal Abstract Search

116 related items for PubMed ID: 8730297

  • 41. Microdeletion 22q11 and oesophageal atresia.
    Digilio MC, Marino B, Bagolan P, Giannotti A, Dallapiccola B.
    J Med Genet; 1999 Feb; 36(2):137-9. PubMed ID: 10051013
    [Abstract] [Full Text] [Related]

  • 42. Upper limb malformations in chromosome 22q11 deletions.
    Shalev SA, Dar H, Barel H, Borochowitz Z.
    Am J Med Genet; 1996 Mar 29; 62(3):302. PubMed ID: 8882793
    [No Abstract] [Full Text] [Related]

  • 43. Terminal deletion of the long arm of chromosome 10.
    Scigliano S, Grégoire MJ, Schmitt M, Jonveaux PH, LeHeup B.
    Clin Genet; 2004 Apr 29; 65(4):294-8. PubMed ID: 15025722
    [Abstract] [Full Text] [Related]

  • 44. [Cerebral polymicrogyria and 22q11 deletion syndrome].
    Arriola-Pereda G, Verdú-Pérez A, de Castro-De Castro P.
    Rev Neurol; 2004 Apr 29; 48(4):188-90. PubMed ID: 19226486
    [Abstract] [Full Text] [Related]

  • 45. [Identification of the small submetacentric supernumerary chromosome in the cat's-eye syndrome].
    Noël B, Mottet J, Nantois Y, Quack B.
    J Genet Hum; 1973 Mar 29; 21(1):23-32. PubMed ID: 4742121
    [No Abstract] [Full Text] [Related]

  • 46. De novo microduplication at 22q11.21 in a patient with VACTERL association.
    Schramm C, Draaken M, Bartels E, Boemers TM, Aretz S, Brockschmidt FF, Nöthen MM, Ludwig M, Reutter H.
    Eur J Med Genet; 2011 Mar 29; 54(1):9-13. PubMed ID: 20849991
    [Abstract] [Full Text] [Related]

  • 47. Persistent fifth aortic arch associated with 22q11.2 deletion syndrome.
    Lee ML, Chen HN, Chen M, Tsao LY, Wang BT, Lee MH, Chiu IS.
    J Formos Med Assoc; 2006 Apr 29; 105(4):284-9. PubMed ID: 16618608
    [Abstract] [Full Text] [Related]

  • 48. Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.
    Driscoll DA, Boland T, Emanuel BS, Kirschner RE, LaRossa D, Manson J, McDonald-McGinn D, Randall P, Solot C, Zackai E, Mitchell LE.
    Cleft Palate Craniofac J; 2006 Jul 29; 43(4):435-41. PubMed ID: 16854201
    [Abstract] [Full Text] [Related]

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  • 50. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome.
    Oh AK, Workman LA, Wong GB.
    Cleft Palate Craniofac J; 2007 Jan 29; 44(1):62-6. PubMed ID: 17214538
    [Abstract] [Full Text] [Related]

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  • 52. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome.
    Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE.
    J Pediatr; 2003 Aug 29; 143(2):277-8. PubMed ID: 12970648
    [Abstract] [Full Text] [Related]

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  • 55. Cerebellar atrophy in a patient with velocardiofacial syndrome.
    Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH.
    J Med Genet; 1995 Jul 29; 32(7):561-3. PubMed ID: 7562973
    [Abstract] [Full Text] [Related]

  • 56. Two patients with asymmetric crying facies, normal cardiovascular systems and deletion of chromosome 22q11.
    Stewart HS, Smith JC.
    Clin Dysmorphol; 1997 Apr 29; 6(2):165-9. PubMed ID: 9134298
    [Abstract] [Full Text] [Related]

  • 57. Mosaic 22q11.2 deletion and tetralogy of Fallot with absent pulmonary valve: an unreported association.
    Prabhu S, Jenny B, James H, Provenzano S.
    World J Pediatr Congenit Heart Surg; 2015 Apr 29; 6(2):342-5. PubMed ID: 25870364
    [Abstract] [Full Text] [Related]

  • 58. An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
    Rao A, O'Donnell S, Bain N, Meldrum C, Shorter D, Goel H.
    Eur J Med Genet; 2014 Feb 29; 57(2-3):65-70. PubMed ID: 24462883
    [Abstract] [Full Text] [Related]

  • 59. [MULTIPLE CONGENITAL MALFORMATIONS IN 2 SISTERS. POSSIBLE ASSOCIATION WITH A CHROMOSOME 22 ABNORMALITY. PRELIMINARY NOTE].
    FREDERIC J, MONARD Y, BONNET F, DODINVAL P.
    Rev Med Liege; 1964 Apr 15; 19():265-71. PubMed ID: 14144255
    [No Abstract] [Full Text] [Related]

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