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Williams Syndrome

Known as: Supravalvar Aortic Stenosis Syndrome, Syndrome, Williams-Beuren, Stenoses, Hypercalcemia-Supravalvar Aortic 
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include… 
National Institutes of Health

Related topics

Related topics

49 relations
Abnormal scarringAbnormal weight gainAortic Valve StenosisArnold-Chiari Malformation, Type I

Broader (2)

Congenital DisordersCongenital chromosomal disease

Narrower (1)

Williams-Beuren Region Duplication Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
Comprar Cardiovascular Physiology Concepts | Richard E. Klabunde | 9781451113846 | Lippincott Williams & Wilkins
Tienda online donde Comprar Cardiovascular Physiology Concepts al precio 39,90 € de Richard E. Klabunde, tienda de Libros de… 
Highly Cited
2009
Highly Cited
2009
Universal HIV testing of infants at immunization clinics: an acceptable and feasible approach for early infant diagnosis in high HIV prevalence settings
Objective:To determine the acceptability and feasibility of universal HIV testing of 6-week-old infants attending immunization… 
Highly Cited
2005
Highly Cited
2005
Framework control by a metalloligand having multicoordination ability: new synthetic approach for crystal structures and magnetic properties.
By utilizing the novel metalloligand l(Cu), [Cu(2,4-pydca)(2)](2)(-) (2,4-pydca(2)(-) = pyridine-2,4-dicarboxylate), which… 
Review
2005
Review
2005
Ministry of Finance and Economic Development (MoFED) Development Planning and Research Department
The Central Statistical Authority (CSA) assisted with the selection of Enumeration Areas for the study sites, as well as… 
Highly Cited
2001
Highly Cited
2001
Analysis of cerebral shape in Williams syndrome.
BACKGROUND As a neurobehavioral disorder with a specific neurocognitive profile and a well-defined genetic etiology, Williams… 
Highly Cited
1994
Highly Cited
1994
Cytoarchitectonic anomalies in a genetically based disorder: Williams syndrome.
We report on cytoarchitectonic neocortical findings in a patient with Williams syndrome (WS), a rare genetic disorder resulting… 
Highly Cited
1982
Highly Cited
1982
Radioimmunoassay for the middle region of human parathyroid hormone using an homologous antiserum with a carboxy-terminal fragment of bovine parathyroid hormone as radioligand.
A new type of RIA for human parathyroid hormone (hPTH) is described. The antiserum was generated in a goat against hPTH, and the… 
Highly Cited
1980
Highly Cited
1980
Changes in Renal Vascular Reactivity at Various Stages of Deoxycorticosterone Hypertension in Rats
We studied the possible contribution of increased vascular reactivity to the development of deoxycorticosterone acetate (DOCA… 
Highly Cited
1965
Highly Cited
1965
CAUDATE, CORTICAL, HIPPOCAMPAL AND DORSAL THALAMIC LESIONS IN RATS: ALTERNATION AND HEBB-WILLIAMS MAZE PERFORMANCE
Highly Cited
1958
Highly Cited
1958
Induced tachycardia: its effect upon the coronary hemodynamics, myocardial metabolism and cardiac efficiency of the intact dog.
The relationship of the heart rate to the coronary blood flow had been studied for many years. Thus, in 1926 Anrep and Segall (1… 
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