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Journal Abstract Search

212 related items for PubMed ID: 9571283

  • 1. Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.
    al-Gazali LI, Bakalinova D, Bakir M.
    Clin Dysmorphol; 1998 Apr; 7(2):123-6. PubMed ID: 9571283
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  • 2. Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?
    de Mattos VF, Graziadio C, Machado Rosa RF, Lenhardt R, Alves RP, Trevisan P, Paskulin GA, Zen PR.
    Pediatr Neurol; 2014 Jun; 50(6):612-5. PubMed ID: 24690526
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  • 3. Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?
    da-Silva EO, Duarte AR, Lins TS.
    Clin Genet; 1997 Jul; 52(1):51-5. PubMed ID: 9272713
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  • 4. Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
    Corsello G, Albanese A, Piccione M, Giuffrè M, Opitz JM.
    Am J Med Genet; 1996 Dec 18; 66(3):265-8. PubMed ID: 8985484
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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 18; 13(4):469-77. PubMed ID: 7158646
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  • 6. Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration.
    Khosravi M, Weaver DD, Bull MJ, Lachman R, Rimoin DL.
    Am J Med Genet; 1998 Apr 28; 77(1):63-71. PubMed ID: 9557897
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  • 10. A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome?
    Nishimura G, Nagai T.
    J Hum Genet; 1998 Apr 28; 43(1):65-8. PubMed ID: 9610002
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  • 12. Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?
    Guion-Almeida ML, Richieri-Costa A.
    Am J Med Genet A; 2006 Nov 15; 140(22):2478-81. PubMed ID: 17041938
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  • 14. Further evidence for the autosomal-recessive inheritance of the COFS syndrome.
    Lurie IW, Cherstvoy ED, Lazjuk GI, Nedzved MK, Usoev SS.
    Clin Genet; 1976 Dec 15; 10(6):343-6. PubMed ID: 825334
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  • 15. Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
    al-Gazali LI, Bakalinova D.
    Clin Dysmorphol; 1998 Jul 15; 7(3):177-84. PubMed ID: 9689990
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  • 17. Mandibulo-acral dysplasia.
    Hoeffel JC, Mainard L, Chastagner P, Hoeffel CC.
    Skeletal Radiol; 2000 Nov 15; 29(11):668-71. PubMed ID: 11201039
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  • 18. Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
    Bayoumi R, Saar K, Lee YA, Nürnberg G, Reis A, Nur-E-Kamal M, Al-Gazali LI.
    J Med Genet; 2001 Jun 15; 38(6):369-73. PubMed ID: 11389160
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  • 19. Intracranial calcification in Raine syndrome: radiological pathological correlation.
    al-Mane K, al-Dayel F, McDonald P.
    Pediatr Radiol; 1998 Nov 15; 28(11):820-3. PubMed ID: 9799309
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