Search Results - "Roberts, Selwyn"

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    Outcome of fetuses with Turner syndrome: a 10-year congenital anomaly register based study by Iyer, Narayan P., Tucker, David F., Roberts, Selwyn H., Moselhi, Marsham, Morgan, Margery, Matthes, Jean W.

    “…Abstract Objective. To describe the characteristics and outcome of fetuses with Turner syndrome reported to a national congenital anomalies register. Methods…”
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    Journal Article
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    Cancer Incidence and Mortality in Men with Klinefelter Syndrome: A Cohort Study by Swerdlow, Anthony J., Schoemaker, Minouk J., Higgins, Craig D., Wright, Alan F., Jacobs, Patricia A.

    “…Background: Men with Klinefelter syndrome have one or more extra X chromosomes and have endocrine abnormalities. Case reports have led to suggestions that men…”
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    Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study by Swerdlow, Anthony J., Schoemaker, Minouk J., Higgins, Craig D., Wright, Alan F., Jacobs, Patricia A.

    Published in Human genetics (01-03-2008)
    “…Constitutional chromosome deletions result in wide ranging morbidity and often fatality. Information about risks and causes of death in these patients is…”
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    Journal Article
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    Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid by Roberts, S H, Little, E, Vaughan, M, Creasy, M R, Jones, A, Powell, T G, Dawson, A J

    Published in Prenatal diagnosis (01-10-1993)
    “…A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by…”
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    Journal Article
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    Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature by Duckett, D P, Roberts, S H

    Published in Human genetics (01-01-1981)
    “…An abnormal short-lived female infant with almost complete trisomy 13 (pter leads to q32 or 33) and partial monosomy 15 (pter leads to q14 or 15) resulting…”
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    Journal Article
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    Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature by PRICE, H. A, ROBERTS, S. H, LAURENCE, K. M

    Published in Human genetics (01-02-1987)
    “…A mentally retarded male was found to be homozygous for a paracentric inversion of the long arm of chromosome 12(inv(12)(q21.1q23.2]. His parents, who are…”
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    Journal Article
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    Longitude by Schreiber, Roy

    Published in The American Historical Review (01-10-2000)
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    Book Review Journal Article
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    Unbalanced reciprocal translocations in cases of Prader-Willi syndrome by DUCKETT, D. P, ROBERTS, S. H, DAVIES, P

    Published in Human genetics (01-01-1984)
    “…A case of Prader-Willi syndrome (PWS) associated with a de novo unbalanced 15q;17q reciprocal translocation presumptively resulting from the tertiary monosomic…”
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    Journal Article
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