Results 241 to 250 of about 3,562,489 (301)

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard   +6 more
wiley   +1 more source

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

Ethical, legal, and social issues of AI use in emergency healthcare: a scoping review. [PDF]

open access: yesBMC Med Inform Decis Mak
Lim JE   +9 more
europepmc   +1 more source

Subtotal Versus Total Splenectomy in Children With Sickle Cell Disease: Clinical Outcomes and Splenic Function Assessed by Pocked Red Blood Cell Count

open access: yes
American Journal of Hematology, EarlyView.
Alma Al Sibaaie   +12 more
wiley   +1 more source

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