نتایج جستجو برای: new mutation
تعداد نتایج: 2104375 فیلتر نتایج به سال:
Two mechanisms have recently been proposed that can significantly speed up finding distant improving solutions via mutation, namely using a random mutation rate drawn from heavy-tailed distribution (“fast mutation”, Doerr et al. (2017) [2]) and increasing the strength based on stagnation detection mechanism (Rajabi Witt (2020) [3]). Whereas latter obtain asymptotically best probability of singl...
This paper presents an improved multi-objective evolutionary algorithm (IMOEA) for the design of planar steel frames. By considering constraints as a new objective function, single objective optimization problems turned to multi objective optimization problems. To increase efficiency of IMOEA different Crossover and Mutation are employed. Also to avoid local optima dynamic interference of mutat...
We present the case of an infant admitted to our department for a rapid broad complex tachycardia and cardiovascular collapse. The patient was submitted genetic testing because conduction defect at baseline ECG family history gene mutation. A new SCN5A mutation variant found leading diagnosis sodium-channel dysfunction arrhythmia.
Background and Aims: Human Cytomegalovirus (HCMV) is one of the life-threatening agents in immunosuppressed patients and congenitally infected neonates in the world. Mutations in UL27 were suggested to confer low- to high-grade Maribavir (MBV) resistance. As pUL27 R233S variation may involve in either MBV-resistance, we aimed to establish a method for identifying R233 coding sequence mutation...
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilitie...
objectives: hearing loss (hl) is the most common sensory disorder, and affects 1 in 1000 newborns. about 50% of hl is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (arnshl). in iran, hl is one of the most common disabilities due...
A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
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