Are parents of children with Cockayne syndrome manifesting features of the disorder?
نویسندگان
چکیده
منابع مشابه
Are parents of children with Cockayne syndrome manifesting features of the disorder?
RATIONALE Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents of patients, are not at risk for developing the disease. PATIENT CONCERNS A series of 14 family subject...
متن کاملthe impact of skopos on syntactic features of the target text
the present study is an experimental case study which investigates the impacts, if any, of skopos on syntactic features of the target text. two test groups each consisting of 10 ma students translated a set of sentences selected from advertising texts in the operative and informative mode. the resulting target texts were then statistically analyzed in terms of the number of words, phrases, si...
15 صفحه اولNEW SYNDROME A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome
A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome Elizabeth Forsythe, Ruth Wild, Gabrielle Sellick, Richard S. Houlston, Alan R. Lehmann, and Emma Wakeling* Kennedy Galton Centre, North West Thames Regional Genetics Service, The North West London Hospitals NHS Trust, Middlesex, United Kingdom Section of Cancer Genetics, Institute of Cancer ...
متن کاملthe evaluation of language related engagment and task related engagment with the purpose of investigating the effect of metatalk and task typology
abstract while task-based instruction is considered as the most effective way to learn a language in the related literature, it is oversimplified on various grounds. different variables may affect how students are engaged with not only the language but also with the task itself. the present study was conducted to investigate language and task related engagement on the basis of the task typolog...
15 صفحه اولذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Medicine
سال: 2017
ISSN: 0025-7974
DOI: 10.1097/md.0000000000008970