نتایج جستجو برای: van wyk grumbach syndrome
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Abstract. We present Glacier Image Velocimetry (GIV), an open-source and easy-to-use software toolkit for rapidly calculating high-spatial-resolution glacier velocity fields. ice fields reveal flow dynamics, ice-flux changes, (with additional data modelling) thickness. Obtaining measurements over wide areas with field techniques is labour intensive often associated safety risks. The recent incr...
Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. Its incidence in the general population is low. The oral manifestations of Ellis-van Creveld are found in soft tissues and teeth, but the dental literature on the subject is scarce. In the last 20 years, 5 cases of Ellis-van Creveld syndrome have been follo...
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC...
Let S be a surface embedded in space in such a way that each point has a neighborhood within which the surface is a terrain. Then S projects to an immersed surface in the plane, the boundary of which is a (possibly self-intersecting) curve. Under what circumstances can we reverse these mappings algorithmically? Shor and van Wyk considered one such problem, determining whether a curve is the bou...
Microvirga lotononidis is a recently described species of root-nodule bacteria that is an effective nitrogen- (N2) fixing microsymbiont of the symbiotically specific African legume Listia angolensis (Welw. ex Bak.) B.-E. van Wyk & Boatwr. M. lotononidis possesses several properties that are unusual in root-nodule bacteria, including pigmentation and the ability to grow at temperatures of up to ...
BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a f...
The current classification of the epilepsies and epileptic syndromes is practical and useful in a majority of cases. However, the choice of its subdivisions was mainly derived from adult data, and its applicability is frequently problematic in early childhood. This article reviews some issues related to the classification of epilepsies in childhood and summarizes recent proposals that might imp...
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