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2. [Ring chromosome 14. I. A case report on homogeneous r(14)]. Raoul O, Razavi F, Lescs MC, Bouhanna A. Ann Genet; 1984 Apr; 27(2):88-90. PubMed ID: 6331795 [Abstract] [Full Text] [Related]
3. [Diagnosis of Zellweger's cerebrohepatorenal syndrome]. Schutgens RB, Heymans HS, Purvis R, Wanders RJ, Schrakamp G, van den Bosch H. Tijdschr Kindergeneeskd; 1984 Dec; 52(6):231-8. PubMed ID: 6528320 [Abstract] [Full Text] [Related]
4. Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Milunsky JM, Wyandt HE, Milunsky A. Am J Med Genet; 1989 Jul; 33(3):364-8. PubMed ID: 2679090 [Abstract] [Full Text] [Related]
5. Zellweger's cerebro-hepato-renal syndrome--variations in expressivity and in defects of bile acid synthesis. Gustafsson J, Gustavson KH, Karlaganis G, Sjövall J. Clin Genet; 1983 Nov; 24(5):313-9. PubMed ID: 6652941 [Abstract] [Full Text] [Related]
8. Cerebrohepatorenal syndrome of Zellweger: a peroxisomal deficiency disorder. Case report and review. Kaplan M, Eidelman AI, Shapira Y, Collins J, Goldfischer S. Isr J Med Sci; 1988 Jun; 24(6):319-24. PubMed ID: 3042692 [Abstract] [Full Text] [Related]
9. Antley-Bixler syndrome: case report and review of the literature. Poddevin F, Delobel B, Courreges P, Bayart M. Genet Couns; 1995 Jun; 6(3):241-6. PubMed ID: 8588853 [Abstract] [Full Text] [Related]
10. Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. Santos H, Cordeiro I, Medeira A, Mendonça E, Antunes NL, Rosa FC. Genet Couns; 1994 Jun; 5(2):187-9. PubMed ID: 7917131 [Abstract] [Full Text] [Related]
11. Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome in two siblings: further delineation of the syndrome and review of the literature. Krajewska-Walasek M. Genet Couns; 1994 Jun; 5(4):345-55. PubMed ID: 7888136 [Abstract] [Full Text] [Related]
12. Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? Legius E, Fryns JP, Casaer P, Boel M, Eggermont E. Ann Genet; 1985 Jun; 28(4):239-40. PubMed ID: 3879437 [Abstract] [Full Text] [Related]
13. [The r(14) syndrome. 3 new observations]. Gilgenkrantz S, Morali A, Vidailhet M, Saura R, Serville F, Fontan D, Moraine C. Ann Genet; 1984 Jun; 27(2):73-8. PubMed ID: 6431894 [Abstract] [Full Text] [Related]
14. Further delineation of the Yunis-Varon syndrome. Hennekam RC, Vermeulen-Meiners C. J Med Genet; 1989 Jan; 26(1):55-8. PubMed ID: 2918527 [Abstract] [Full Text] [Related]
15. Zimmermann-Laband syndrome in a patient with severe mental retardation. Van Buggenhout GJ, Brunner HG, Trommelen JC, Hamel BC. Genet Couns; 1995 Jan; 6(4):321-7. PubMed ID: 8775419 [Abstract] [Full Text] [Related]
16. A high incidence of PKD in a large geographic area of south-western Hungary: a medical genetic study. Forrai G, Tauszik T, Tauszik N, Mohr T, Tunyogi MC, Holics C, Bánkövi G, Gál I. Prog Clin Biol Res; 1989 Jan; 305():89-94. PubMed ID: 2762359 [No Abstract] [Full Text] [Related]
17. [46,XX,trcp(1;10),trcp(2;8) karyotype of maternal origin and 2p trisomy]. Vianello MG, Fasce L, Besio B, Lupi M, Scribanis R, Sburlati C, Buoncompagni A. Minerva Pediatr; 1988 Sep; 40(9):561-9. PubMed ID: 3068505 [No Abstract] [Full Text] [Related]
18. [Cerebro-hepato-renal syndrome. Apropos of a new case]. García Burriel JI, Carbajosa Herrero MT, Pedraz García C, Santos Borbujos J, Mateos Cañizal M, García González P. An Esp Pediatr; 1986 Jul; 25(1):67-9. PubMed ID: 3752742 [No Abstract] [Full Text] [Related]
19. [Seckel syndrome (the bird-headed dwarf)]. Fehlow P. Z Arztl Fortbild (Jena); 1986 Jul; 80(19):821-2. PubMed ID: 3811419 [No Abstract] [Full Text] [Related]