نتایج جستجو برای: genetic disease

تعداد نتایج: 1987847  

ژورنال: مجله علمی پژوهان 2019
ستاری, آرش, میرزااحمدی, سینا, نداف, هانیه,

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...

Journal: :iranian journal of public health 0
hasnain abbas dharamshi karachi medical and dental college, karachi, pakistan. tufail raza baqai medical college, karachi, pakistan. ali abbas mohsin ali sindh medical college/dow university of health sciences, karachi, pakistan. zuhair lilani karachi medical and dental college, karachi, pakistan. syed zohaib ahsan sindh medical college/dow university of health sciences, karachi, pakistan. ahmad faraz karachi medical and dental college, karachi, pakistan.

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...

Journal: :genetics in the 3rd millennium 0
امید آریانی omid ariani special medical center, tehran, iran مسعود هوشمند masoud houshmand محمد حسین صنعتی mohammad hossein sanati

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 ...

Journal: :iranian journal of medical sciences 0
m baghaei

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...

Journal: :Journal of Medical Genetics 1986

Journal: :Progress in Neurology and Psychiatry 2008

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید