Search Results - "Zunich, J"
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Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature
Published in American journal of medical genetics (10-04-1995)“…We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g,…”
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2
Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)
Published in American journal of medical genetics. Part A (01-05-2004)“…We report on a case of an interstitial duplication of 11q in a patient with developmental delay and in his moderately delayed mother. Partial trisomy 11q is…”
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3
Toxoplasmosis masquerading as a psychotropic side effect
Published in The journal of clinical psychiatry (01-07-1978)“…When treating a patient with neuroleptics or tricyclic antidepressants, it is usually assumed that complaints of blurred vision can be ascribed to the…”
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New syndrome of congenital ichthyosis with neurologic abnormalities
Published in American journal of medical genetics (01-06-1983)Get more information
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Additional case report of new neuroectodermal syndrome
Published in American journal of medical genetics (01-03-1984)Get more information
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Tissue-specific methylation differences in a fragile X premutation carrier
Published in Clinical genetics (01-05-1999)“…Methylation of a premutation was found in a small percentage of blood cells in a male premutation carrier for the FMR1 mutation. To investigate the…”
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Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases
Published in Journal of medical genetics (01-06-1995)“…A new neuroectodermal syndrome (designated CHIME syndrome) was described in 1983 with a total of four patients reported, it is presumed to be an autosomal…”
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8
Autosomal recessive transmission of neuroectodermal syndrome
Published in Archives of dermatology (1960) (01-08-1988)Get more information
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9
Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities
Published in Archives of dermatology (1960) (01-09-1985)“…We encountered two patients with a congenital migratory ichthyosiform dermatosis, retinal colobomas, conductive hearing loss, seizures, mental retardation, and…”
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