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Abnormality of the skeletal system

Known as: Skeletal abnormalities, Skeletal anomalies 
An abnormality of the skeletal system. [HPO:probinson]
National Institutes of Health

Papers overview

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Review
2006
Review
2006
Biochemistry of homocysteine in health and diseases.
The amino acid homocysteine (Hcy), formed from methionine has profound importance in health and diseases. In normal circumstances… 
Highly Cited
1999
Highly Cited
1999
Mouse Dac, a novel nuclear factor with homology to Drosophila dachshund shows a dynamic expression in the neural crest, the eye, the neocortex, and the limb bud
Dac is a novel nuclear factor in mouse and humans that shares homology with Drosophila dachshund (dac). Alignment with available… 
Highly Cited
1998
Highly Cited
1998
Disparate effects of mild, moderate, and severe secondary hyperparathyroidism on cancellous and cortical bone in rats with chronic renal insufficiency.
Review
1994
Review
1994
Hip arthroplasty in haemodialysis patients.
We retrospectively reviewed 17 hip arthroplasties in 15 patients having haemodialysis for chronic renal failure. The duration of… 
Review
1993
Review
1993
Inverted duplication of 8p: ten new patients and review of the literature.
We evaluated 10 patients with an inverted tandem duplication of 8p. Inverted duplications of chromosome 8 have been reported… 
Highly Cited
1989
Highly Cited
1989
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
We report on a child with Waardenburg syndrome type I and a paracentric inversion of chromosome 2. This 20 month-old boy has… 
Highly Cited
1986
Highly Cited
1986
Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis.
A lethal short-limbed dwarfism was diagnosed at autopsy as the Langer-Saldino variant of achondrogenesis by radiological… 
Highly Cited
1985
Highly Cited
1985
The phenotypic and cytogenetic spectrum of partial trisomy 9.
A new patient with trisomy for the chromosome segment 9pter----q22 is compared to 19 previously reported cases of partial trisomy… 
Highly Cited
1972
Highly Cited
1972
Effects of sodium arsenite on fetal development
SummarySingle intraperitoneal injections of sodium arsenite were given to albino Swiss-Webster mice on one of days 7–12 of… 
Highly Cited
1963
Highly Cited
1963
Multiple nevoid basal cell carcinoma, odontogenic keratocysts and skeletal anomalies. A syndrome.
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