نتایج جستجو برای: mediterranean variant

تعداد نتایج: 135072  

Journal: :گوارش 0
morteza khatibian peyman arab

familialmediterranean fever (fmf) is a hereditary syndrome characterized by recurrent attacks of fever and serositis. liver involvement in fmf has been reported in association with amyloidosis or rarely with vasculitis.in this report, a 32 year-old man with recurrent attacks of fever, abdominal pain and arthralgia is described who had moderate increase in liver transaminases only during disease...

Journal: :journal of sciences, islamic republic of iran 2009
m.r. noori-daloii

glucose-6-phosphate dehydrogenase (g6pd) in humans is in x-linked disorder, housekeeping enzyme and vital for the survival of every cell. it catalyses the oxidation of glucose-6-phosphate to 6-phospho gluconat in the first committed step of the pentose phosphate pathway, which provides cells with pentoses and reducing power in the form of nadph. nadph is required to protect the cells against ox...

Journal: :Pulmonology 2018
A Grangeia S Alves L Gonçalves I Gregório A C Santos H Barros A Barros F Carvalho C Moura

In Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported...

Ahmad Moieni, Mokhtar Jalali-Javaran Payam Pour Mohammadi

This study involves in vitro androgenesis of <sp...

J. Saien M. Kharazi S. Asadabadi

e"> The adsorption behavior of three amphiphilic ionic liquids (ILs), 1-alkyl-3- methylimidazolium chloride {[Cnmim][Cl], n=6<span style="font-family: SymbolMT; font-size: 10pt; color: #000000; font-styl...

"> Experimental measurements of overall gas holdup (εg<span style="font-family: TimesNewRomanPS-ItalicMT; font-size: 10pt; c...

2015
Malika Dahmani Fatima Ammar-Khodja Crystel Bonnet Gaelle M. Lefèvre Jean-Pierre Hardelin Hassina Ibrahim Zahia Mallek Christine Petit

BACKGROUND More than 70 % of the cases of congenital deafness are of genetic origin, of which approximately 80 % are non-syndromic and show autosomal recessive transmission (DFNB forms). To date, 60 DFNB genes have been identified, most of which cause congenital, severe to profound deafness, whereas a few cause delayed progressive deafness in childhood. We report the study of two Algerian sibli...

Journal: :The Journal of infectious diseases 2015
Mervi Aavikko Eevi Kaasinen Janne K Nieminen Minji Byun Iikki Donner Roberta Mancuso Pasquale Ferrante Mario Clerici Lucia Brambilla Athanasia Tourlaki Ronit Sarid Emma Guttman-Yassky Minna Taipale Ekaterina Morgunova Pirita Pekkonen Päivi M Ojala Eero Pukkala Jean-Laurent Casanova Outi Vaarala Pia Vahteristo Lauri A Aaltonen

BACKGROUND Classic Kaposi sarcoma (cKS) is an inflammatory tumor caused by human herpesvirus 8 (HHV-8) commonly observed in elderly men of Mediterranean origin. We studied a Finnish family of 5 affected individuals in 2 generations. Except for atypical mycobacterial infection of the index case, the affected individuals did not have notable histories of infection. METHODS We performed genome a...

K. Nouri N. Bahrami Siavashani

Fractional calculus has been used to model physical and engineering processes that are found to be best described by fractional diff<span style="font-family: NimbusRomNo...

A. M. Nazari E. Kokabifar G.B. Loghmani S. M. Karbassi

Consider an n × <span style="fon...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید