نتایج جستجو برای: clinical criteria

تعداد نتایج: 1360074  

Journal: :The Journal of Heart and Lung Transplantation 2016

Journal: :Alzheimers & Dementia 2023

Background Early and accurate diagnosis of fatal familial insomnia (FFI) is critical for effective screening; however, this rare disease remains difficult to recognize. This work aimed propose a new diagnostic criterion with optimal sensitivity, specificity, likelihood ratio. Methods An international group experts was established 128 genetically confirmed FFI cases 281 non-FFI prion controls ar...

Journal: :Pediatrics 2001
M Gunay-Aygun S Schwartz S Heeger M A O'Riordan S B Cassidy

BACKGROUND Prader-Willi syndrome (PWS) is a complex, multisystem disorder. Its major clinical features include neonatal hypotonia, developmental delay, short stature, behavioral abnormalities, childhood-onset obesity, hypothalamic hypogonadism, and characteristic appearance. The genetic basis of PWS is also complex. It is caused by absence of expression of the paternally active genes in the PWS...

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