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| rdf:type
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| description
| - article (en)
- ലേഖനം (ml)
- հոդված (hy)
- artículu científicu (ast)
- wetenschappelijk artikel (nl)
- наукова стаття, опублікована в січні 1976 (uk)
- im Januar 1976 veröffentlichter wissenschaftlicher Artikel (de)
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| publication date
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| language of work or name
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| language of work or name
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| author name string
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| author name string
| - Lawrence A. Frohman
- John A. Edwards
- Andrew J. Scoma
- Prahlad K. Sethi
- Robin M. Bannerman
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| rdfs:label
| - A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance (en)
- A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance (nl)
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| skos:prefLabel
| - A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance (en)
- A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance (nl)
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| name
| - A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance (en)
- A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance (nl)
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| title
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| title
| - A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance (en)
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| page(s)
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| page(s)
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| instance of
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| instance of
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| main subject
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| main subject
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| published in
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| published in
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| issue
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| issue
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| volume
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| DOI
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| DOI
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| DOI
| - 10.1016/0002-9343(76)90529-5
|
| is about
of | |
| is cites work
of | - Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.
- Hearing impairment and pigmentary disturbance
- The retinal ciliopathies.
- Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes
- Choroideremia, obesity, and congenital deafness
- Alström syndrome.
- Alström syndrome. Report of 22 cases and literature review.
- Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome
- Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis
- The syndromes of primary hormone resistance
- A systematic review of genetic syndromes with obesity
- Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers
- Alström's syndrome with Kleinfelter's karyotype.
- Hypogonadism and neurological diseases
- Epidemiology, aetiology and management of abnormal scarring: a review of the literature
- The Bardet–Biedl and orofacial digital type 1 ciliopathies
- The Laurence-Moon-Bardet-Biedl Syndrome: Unresponsiveness to the Action of Testosterone, A Possible Mechanism
- A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropic hypogonadism, small stature, mental retardation, cranial dysmorphism, and abnormal electroencephalogram.
- Perspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease
- Pigmentary degeneration of the retina in heredodegenerative neurological diseases
- Hereditary Considerations in Common Disorders
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| is cites work
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