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Journal Abstract Search

298 related items for PubMed ID: 10319196

  • 1. Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.
    al-Gazali LI, Bakir M, Sadaghatian MR, Nath R, Haas D.
    Clin Dysmorphol; 1999 Apr; 8(2):87-92. PubMed ID: 10319196
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  • 5. Melnick-Needles syndrome: indication for an autosomal recessive form.
    ter Haar B, Hamel B, Hendriks J, de Jager J.
    Am J Med Genet; 1982 Dec; 13(4):469-77. PubMed ID: 7158646
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  • 7. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
    Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, Buzio G, Ferrario E, Piccato E.
    Am J Med Genet; 1992 Jan 01; 42(1):112-6. PubMed ID: 1308349
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  • 9. Fallot complex, severe mental, and growth retardation: a new autosomal recessive syndrome?
    Bindewald B, Ulmer H, Müller U.
    Am J Med Genet; 1994 Apr 01; 50(2):173-6. PubMed ID: 8010348
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  • 10. Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs.
    Urioste M, Arroyo A, Martínez-Frías ML.
    Am J Med Genet; 1991 Dec 15; 41(4):475-7. PubMed ID: 1776641
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  • 11. A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
    Ben-Mahmoud A, Ben-Salem S, Al-Sorkhy M, John A, Ali BR, Al-Gazali L.
    Clin Genet; 2018 Jun 15; 93(6):1148-1158. PubMed ID: 29443383
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  • 12. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.
    Schinzel A, Giedion A.
    Am J Med Genet; 1978 Jun 15; 1(4):361-75. PubMed ID: 665725
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  • 13. Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.
    ter Heide H, Bulstra SK, Reekers A, Schrander JJ, Schrander-Stumpel CT.
    Am J Med Genet; 2002 Jul 15; 110(4):359-64. PubMed ID: 12116210
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  • 14. Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?
    Karaer K, Rosti RO, Torun D, Sanal HT, Guran S.
    Genet Couns; 2012 Jul 15; 23(4):457-63. PubMed ID: 23431744
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  • 15. 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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  • 16. 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 01; 37(1):133-5. PubMed ID: 2240030
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  • 17. Anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3.
    Temple IK, Browne C, Hodgkins P.
    Clin Dysmorphol; 1999 Jul 01; 8(3):157-63. PubMed ID: 10457847
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  • 18. Perlman syndrome: report of a case with additional radiographic findings.
    Herman TE, McAlister WH.
    Pediatr Radiol; 1995 Nov 01; 25 Suppl 1():S70-2. PubMed ID: 8577560
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  • 19. Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.
    Moreno LA, Gottrand F, Turck D, Manouvrier-Hanu S, Mazingue F, Morisot C, Le Deist F, Ricour C, Nihoul-Feketé C, Debeugny P.
    Am J Med Genet; 1990 Sep 01; 37(1):143-6. PubMed ID: 2240032
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  • 20. A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.
    Rutledge JC, Friedman JM, Harrod MJ, Currarino G, Wright CG, Pinckney L, Chen H.
    Am J Med Genet; 1984 Oct 01; 19(2):255-64. PubMed ID: 6507477
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