Results 211 to 220 of about 1,452,311 (301)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun   +7 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman   +18 more
wiley   +1 more source

The nurse specialist role in Hong Kong: perceptions of nurse specialists, doctors and staff nurses

Journal of Advanced Nursing, 2001
The nurse specialist role in Hong Kong: perceptions of nurse specialists, doctors and staff nurses Aim. The purpose of this study is to review and delineate the impact in terms of the perceived importance as well as the role components of nurse specialists in Hong Kong. Rationale. The Nurse Specialist Scheme was launched in 1994 in Hong Kong. Studies
K P Chang
exaly   +3 more sources

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