نتایج جستجو برای: angelman syndrome
تعداد نتایج: 621986 فیلتر نتایج به سال:
The proximal q arm of chromosome 15 contains breakpoint regions BP1-BP5 with the classic deletion of BP1-BP3 best known to be associated with Prader-Willi and Angelman syndromes. The region is approximately 500 kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features includ...
Many a parent of a child with a neurogenetic condition (surprisingly) little pathological material has been available often wonders whether ’tis nobler in the mind to suffer the slings and arrows of outrageous fortune or to contemplate hope for effective treatment. With regard to Angelman syndrome, recent results from molecular biology have opened unsuspected avenues for circumventing the molec...
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic ...
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