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  • 1
    Online Resource
    Online Resource
    Berlin [u.a.] : Springer
    Keywords: Humangenetik ; Lehrbuch ; Humangenetik
    Type of Medium: Online Resource
    Pages: 1 Online-Ressource
    ISBN: 9783540240365 , 3540240365 , 9783540294795
    Series Statement: Springer-Lehrbuch
    RVK:
    Language: German
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  • 2
    Online Resource
    Online Resource
    Heidelberg : Springer
    Keywords: Humangenetik ; Lehrbuch ; Humangenetik
    Type of Medium: Online Resource
    Pages: 1 Online-Ressource (XII, 429 S.) , Ill., graph. Darst.
    Edition: 4., neu bearb. Aufl.
    ISBN: 3540326774 , 9783540326779 , 9783540326786
    Series Statement: Springer-Lehrbuch
    RVK:
    Language: German
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 107 (2000), S. 51-57 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Cryptic rearrangements involving the terminal regions of chromosomes are suspected to be the cause of idiopathic mental retardation in a significant number of cases. This finding highlights the necessity of a primary screening test for such chromosome aberrations. Here we present a multiplex fluorescence in situ hybridization telomere integrity assay which allows the detection of submicroscopic aberrations in the telomeric regions of all chromosomes. This novel approach identified an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three cases of unexplained mental retardation and dysmorphic features. The symptoms of the patients represent neither the classical dup(3q)- nor cri du chat syndrome, although all affected individuals demonstrate several features of both syndromes. The identification of two balanced translocation carriers emphasizes the significance of the telomere integrity assay for genetic counseling and prenatal diagnosis
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 62 (1982), S. 95-109 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Mental retardation, in particular the “X-linked” type, has interested geneticists for many years. An increasing number of affected families have been to genetic counselling centres, and an effort is being made to find clinical and cytogenetic methods so a reliable diagnosis can be made. This would enable the detection of carriers and the opportunity to offer prenatal diagnosis. Many questions remain regarding X-linked mental retardation, its causes, diagnosis, and prevention. In this article we try to give an overview about the status of our present knowledge and the questions to be answered in the future.
    Type of Medium: Electronic Resource
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