نتایج جستجو برای: wolcott
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Background Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis. The frequency of this rare syndrome is largely unknown. Objectives To define the frequency and spectrum of WRS in the Kingdom of Saudi Arabia (KSA) based on published data. Methods The Medline database was ...
Wolcott-Rallison syndrome (WRS) is a rare autosomal-recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystemic clinical manifestations. Based on genetic studies of two inbred families, we previously identified the gene responsible for this disorder a...
Volume 19, Number 3256 257 Proc (Bayl Univ Med Cent) 2006;19:257–268 B arry Cooper (Figure 1) was born on January 22, 1945, in Louisville, Kentucky, and that is where he grew up. His parents had 4 sons, and Barry was the second. One of Barry’s brothers also became a physician, and the other two brothers became lawyers. After graduating first in his high school class, Barry Cooper went to Frankl...
While writing a book on paraphilias, the author made a thorough search of early references to paraphilias in literature, especially the Bible. Surprisingly just one published paper was available in the literature having any discussion on the references of paraphilia in the Bible, and that too was in French. [Bieder J. The polymorphous sexual deviant: a reading of Freud and the Bible. Ann Med Ps...
Se evaluó la fluctuación de insectos plagas en 16 genotipos maíz, se analizó relación entre el número y rendimiento grano, identificaron las más importantes para condiciones del distrito Campo Verde Pucallpa, región Ucayali. maíz amarillo duro fueron evaluados bajo diseño bloques completos al azar con tres repeticiones; cada parcela tuvo 72 plantas sembradas a una densidad 62.500 por hectárea. ...
BACKGROUND Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients. AIMS To describe a cohort of WRS patients and discuss the pattern and management of their liver disease. METHODS Detailed phenotyping and direct sequencing of EIF2AK3 gene were conducte...
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