Results 271 to 280 of about 29,602,681 (295)
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Pediatric Radiology, 1989
A 10-year old, mentally and physically normally developed girl complained of back pain following an accident. Radiological findings revealed an inhomogeneous, coarse osteosclerosis along the endplates and posterior parts of the ovoid shaped vertebral bodies, in the proximal and distal femora-, proximal humeri and tibia epiphyses, and along the lateral ...
H, Schmidt +3 more
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A 10-year old, mentally and physically normally developed girl complained of back pain following an accident. Radiological findings revealed an inhomogeneous, coarse osteosclerosis along the endplates and posterior parts of the ovoid shaped vertebral bodies, in the proximal and distal femora-, proximal humeri and tibia epiphyses, and along the lateral ...
H, Schmidt +3 more
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A case of new chondrodystrophy
Pediatric Radiology, 1983A form of lethal short-limbed dwarfism (a new chondrodystrophy) has been presented. The clinical, radiological and histological characteristics of this entity have been discussed and illustrated. Its distinction from Achondrogenesis type I, both radiologically and histologically, is described.
T, Koide, H, Katayama, Y, Sumi, K, Ishi
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A new case of representational neglect
The Italian Journal of Neurological Sciences, 1999We describe a right-handed female patient who, after a right-hemisphere stroke, showed a florid representational neglect, but no evidence of perceptual neglect. This finding provides further support for the argument that orienting attention to the representational and perceptual spatial domains is subserved by independent neural mechanisms.
PERU, ANDREA, ZAPPAROLI P.
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Donohue syndrome: a new case with a new complication
Journal of Pediatric Endocrinology and Metabolism, 2015AbstractDonohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor gene. DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting ...
Rasha, Odeh +2 more
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A new case of a LUMBAR syndrome
American Journal of Medical Genetics Part A, 2013AbstractLUMBAR syndrome (lower body congenital infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) is a rare association between infantile hemangiomas of the lower half of the body and regional congenital anomalies.
Mahin, Golabi +5 more
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American Journal of Medical Genetics Part A, 2008
Vertebrate telomeres consist of tandem repeats of the TTAGGG sequence that cap the ends of chromosomes, protecting them from degradation and fusion. Extensive evidence has shown that telomere shortening and erosion lead lo chromo¬some end-to-end fusions and genomic instability, causing mental retardation and/or malformation syndromes.
PICCIONE, Maria +6 more
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Vertebrate telomeres consist of tandem repeats of the TTAGGG sequence that cap the ends of chromosomes, protecting them from degradation and fusion. Extensive evidence has shown that telomere shortening and erosion lead lo chromo¬some end-to-end fusions and genomic instability, causing mental retardation and/or malformation syndromes.
PICCIONE, Maria +6 more
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A New Case of Isolated Trichothiodystrophy
Dermatology, 2009We describe a new case of isolated trichothiodystrophy. This entity is characterized by sparse and brittle hair, low sulfur hair content, tiger tail pattern of the hair under polarizing microscopy, clean transverse fractures through the hair shaft and absent or defective hair cuticles.
S, Alfandari +5 more
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Calciphylaxis: Seven New Cases
Journal of Cutaneous Medicine and Surgery, 2000Background: Calciphylaxis is a rare condition occurring most frequently in patients with end-stage renal disease (ESRD). It is characterized by vascular calcifications with a large variety of skin lesions.
J, Alain +4 more
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Fall Meeting of the Society of Petroleum Engineers of AIME, 1974
American Institute of Mining, Metallurgical, and Petroleum Engineers, Inc. This paper was prepared for the 49th Annual Fall Meeting of the Society of Petroleum Engineers of AIME, to be held in Houston, Texas, Oct. 6–9, 1974. Permission to copy is restricted to an abstract of not more than 300 words. illustrations may not be copied.
J.F. Cuthbert, Johnson W.M.
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American Institute of Mining, Metallurgical, and Petroleum Engineers, Inc. This paper was prepared for the 49th Annual Fall Meeting of the Society of Petroleum Engineers of AIME, to be held in Houston, Texas, Oct. 6–9, 1974. Permission to copy is restricted to an abstract of not more than 300 words. illustrations may not be copied.
J.F. Cuthbert, Johnson W.M.
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Lipomas of the Esophagus: A New Case
Digestion, 2009We present a new case of esophageal lipoma. The rarity of this tumor and its submucosal origin can create problems for the correct diagnosis. Symptoms, when present, are of mechanical origin (obstruction) with dysphagia. Treatment is endoscopic or surgical removal.
P, Sossai +3 more
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