Facebook Twitter Google Share on Facebook genetic disorder (redirected fromHereditary diseases) Thesaurus Medical Encyclopedia Related to Hereditary diseases:Genetic diseases genetic disorder n. A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also calledheredita...
genetic disorder - a disease or disorder that is inherited genetically congenital disease, genetic abnormality, genetic defect, genetic disease, hereditary condition, hereditary disease, inherited disease, inherited disorder monogenic disease, monogenic disorder - an inherited disease controlled by a single ...
This revealed selected genetically unresolved families on which WGS analysis was performed and functional assays were initiated.doi:10.1111/aos.16314Zeitz, ChristinaAudo, IsabelleJohn Wiley & Sons, Ltd.Acta Ophthalmologica (1755375X)
Neurocutaneous disorders are a group of conditions that result in long-term involvement of the nervous system and skin. Often, they are genetically inherited and symptoms emerge throughout adolescence [1]. Many of these conditions involve an understood genetic phenomenon, although spontaneous mutations...
Inherited Retinal Disorders (IRDs) are a major cause of blindness worldwide; together they have an incidence of 1:2000. However, these disorders are clinically and genetically heterogeneous. They can be stationary or progressive, leading to complete vision loss. Many genes underlying these disorders...
These inputs are then processed through MAVERICK’s ensemble of transformer-based neural networks to produce the output: a three-class prediction corresponding to the probability that the input variant is benign, pathogenic with dominant inheritance, or pathogenic with recessive inheritance. The three ...
The ability of crop plants to develop freezing tolerance by cold acclimation is a genetically inherited trait. For example, genes controlling frost toleran... J.Singh,A.M.Johnson-Flanagan - Springer Berlin Heidelberg 被引量: 75发表: 1989年 Identification of miRNAs involved in pear fruit developme...
leading to mitochondrial disease occurs during the final stage of egg formation, we’re in a position to produce eggs in vitro and manipulate them, pharmacologically as well as genetically, in order to reduce mutation levels, lowering the probability that a child will develop the disease,” he ...
well-being as impaired, when in reality their scores were comparable to the general pediatric population.25 Our data, therefore, aligns to the limited literature to date suggesting that there is no change in psychosocial and health status outcome following genetic testing for inherited heart diseases...
The doctor thought that Bae'sillnesswas caused by stress. You can use the adjectiveslongandshortin front ofillness, but not in front ofdisease. He died last month after along illness. 2.'disease' Adiseaseis a particular kind of illness caused by bacteria or an infection. Diseases can often...