نتایج جستجو برای: inherited neurodevelopmental disease
تعداد نتایج: 1517926 فیلتر نتایج به سال:
Retinoblastoma is a rare type of eye cancer that usually occurs in early childhood, usually before the age of five. This type of cancer occurs in the retina, the light-sensitive tissue behind the eye that recognizes light and color. It is the most common type of eye cancer in children. One-third of all retinoblastomas are inherited, meaning that mutations in the RB1 gene are present in all cell...
BACKGROUND Inherited neurotransmitter disorders are primary defects of neurotransmitter metabolism. The main purpose of this retrospective cohort study was to identify prevalence of inherited neurotransmitter disorders. METHODS This retrospective cohort study does not have inclusion criteria; rather included all patients who underwent cerebrospinal fluid (CSF) homovanillic and 5-hydroxyindol ...
This article focuses on recent advances in the identification of genes and genetic polymorphisms that have been implicated in the development of human interstitial lung diseases. It focuses on the inherited mendelian diseases in which pulmonary fibrosis is part of the clinical phenotype and the genetics of familial idiopathic pulmonary fibrosis and other rare inherited interstitial lung disease...
The term neurodevelopmental disorder encompasses a wide range of diseases, including recognizably distinct syndromes known to be caused by very rare mutations in specific genes or chromosomal loci, and also much more common disorders such as schizophrenia, autism spectrum disorders, and idiopathic epilepsy and mental retardation. After decades of frustration, the past couple of years have sudde...
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