نتایج جستجو برای: variant 2

تعداد نتایج: 2600371  

Bita Shalbafan Forouzan Sadeghian Javad Mohammadi-Asl, Maryam Tahmasebi Birgani, Mohammadreza Hajjari, Neda Golchin

Objective(s): Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to fin...

امــروزه شــکل جدیــد ســاختارهای مدیریــت شــهری، بــه منظــور دســتیابی بــه توســعه ای پایــدار، راهــی جز قبــول ســاختارهای اجتماعــی و مشــارکت جامعــه مدنــی پیــش روی ندارنــد. از ایــ...

F. Esmaeelzadeh R. A. Kamyabi Gol R. Raisi Tousi

In this paper we introduce two-wavelet constants for square integrable representations of homogeneous spaces. We establish the orthogonality relations fo...

جعفرزاده, مهرزاد, حاجی حسینی, رضا, فلاح, سودابه, هدایتی, مهدی,

    Background & Aim: Sumo4 has recently been found to be mainly expressed in kidney. Single nucleotide polymorphism, which is detected in sumo4, replaces a highly conserved methionine with a valine (M55V) residue. This variant of sumo4 may induce higher nuclear factor–KB (NFKB) activity because NFKB is known to mediate the development of diabetic nephropathy.Patients and Method: This study inv...

Journal: :journal of paramedical sciences 0
abolfazl movafagh department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran mojtaba ghadiani department of internal medicine/ oncology, taleghani hospital, shahid beheshti university, tehran dawood zare abdolahi department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran hossein darvish department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran reza mirfakhraei department of medical genetics, school of medicine, shahid beheshti university of medical sciences, tehran mohamad hassan heidari department of medical anatomy, faculty of medicine, shahid beheshti university of medical sciences, tehran

a large number of simple or complex translocation involving the cml and aml chromosomal abnormalities has been described. this study was aimed to investigate the complex chromosome aberrations in the series of myeloid malignancies including cml and aml. the present report deals analyzed 187 consecutive with cml and aml patients, using methotrexate  cell synchronization and  un-stimulated cultur...

Journal: :Journal of Investigative Dermatology 2014

Journal: :Arteriosclerosis, Thrombosis, and Vascular Biology 2002

Journal: :Annals of the New York Academy of Sciences 2010

Journal: :New England Journal of Medicine 2020

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