نتایج جستجو برای: genetic disease
تعداد نتایج: 1987847 فیلتر نتایج به سال:
Background and Objective: Spina Bifida (SB) is a congenital malformation and is a result of the failure of the closure and failure of the neural tube. The causes and mechanisms of genetic involvement involved in the onset of SB are still ambiguous. The present study addresses the genetic variation in SB disease using Next Generation Sequencing (NGS) as a powerful molecular tool for comprehensiv...
crouzon syndrome is a rare genetic disorder inherited in autosomal dominant pattern with complete penetration and variable expressivity. its most notable characteristic feature is premature synostosis of cranial sutures the case presented is of a 4 yr old boy with box like head with microcephaly, protuberant eyes, hydrocephalus, low visual acquity diagnosed as a case of crouzon syndrome after c...
canavan disease is a rare, autosomal recessive inherited, neurological disorder, classified as a leukodystrophy. the symptoms of canavan disease appear in early infancy and progress rapidly. most infants with canavan disease appear normal early in life. by three to five months of age, macrocephaly, lack of head control, and developmental delays become apparent. developmental delay becomes more ...
background: zoonotic cutaneous leishmaniasis (zcl) is a polymorphic disease which may show various clinical manifestations. although genetic variability of the parasite is suggested to be one of the factors influencing clinical manifestations in leishmaniasis, no data exist regarding genetic polymorphism of leishmania major . therefore, determination of genetic variation within the species of l...
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