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Journal Abstract Search

184 related items for PubMed ID: 4148394

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  • 4. Letter: Noonan's phenotype in an offspring of an alcoholic mother.
    Hall BD, Orenstein WA.
    Lancet; 1974 Apr; 1(7859):680-1. PubMed ID: 4132346
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  • 5. Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation.
    García-Sagredo JM, Lozano C, Ferrando P, San Román C.
    Clin Genet; 1984 Aug; 26(2):117-24. PubMed ID: 6147215
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  • 7. Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.
    Dallaire L.
    J Med Genet; 1969 Jun; 6(2):113-20. PubMed ID: 4389828
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  • 11. [Case of Arskog is syndrome].
    Chen TP, Romanenko OP, Shats VIa, Sandomirskaia LM, Azarova VIa.
    Pediatriia; 1980 Apr; (4):60-1. PubMed ID: 7189853
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  • 12. Association of hypertelorism and hypospadias--the BBB-syndrome.
    Michaelis E, Mortier W.
    Helv Paediatr Acta; 1972 Dec; 27(6):575-81. PubMed ID: 4405408
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  • 14. Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report.
    Fu Q, Wang H, Qi Z, Zhang Y.
    Am J Med Genet A; 2019 Feb; 179(2):285-289. PubMed ID: 30667571
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  • 16. Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.
    Chen CP, Lin SP, Chen MR, Su JW, Chern SR, Chen YJ, Lee MS, Wang W.
    Genet Couns; 2012 Feb; 23(2):195-200. PubMed ID: 22876577
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  • 17. Partial F trisomy associated with familial F-13 translocation detected and identified by parental chromosome studies.
    Carrel RE, Sparkes RS, Wright SW.
    J Pediatr; 1971 Apr; 78(4):664-72. PubMed ID: 5547823
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  • 18. Prepubertal XX male with profound physical and mental deficiency, retinitis pigmentosa and multiple congenital anomalies.
    Pescia G, Spahr A, Genton N, Juillard E.
    Helv Paediatr Acta; 1978 Apr; 33(1):63-72. PubMed ID: 566736
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  • 19. Partial trisomy 8: trisomy of the distal part of the long arm of chromosome number 8 plus (8q2) in a severely retarded and malformed girl.
    Fryns JP, Verresen H, Van den Berghe H.
    Humangenetik; 1974 Apr; 24(3):241-6. PubMed ID: 4140835
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  • 20. [Case of chromosome X pentasomy].
    Sito A, Krzyzanowska J, Hofman H, Witkowska J, Sioch R, Mroczek-Orłow T.
    Pediatr Pol; 1980 Jan; 55(1):77-80. PubMed ID: 7367071
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