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51st ERA-EDTA CONGRESS

 

31 May - 3 June 2014 AMSTERDAM
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Discussion forum - 51st ERA-EDTA CONGRESS
    Topic - D) Genetic diseases and molecular genetics.

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Poster: 63
Visits: 20
Title: PHENOTYPE-GENOTYPE CORRELATIONS IN PRIMARY HYPEROXALURIA TYPE 1: THE I244T, 33_34INSC AND G190R AGXT MUTATION
Authors: saoussen mdimegh , I.Mbarek;A.Moussa; A.Omezzine; S.Mabrouk ; N. Zouari ; S. Hassayoun; J. CHEMLI ; D.Zellama; A.Achour; A. Bouslama ;S.Abroug
Centre: Biochemistry Departement, Sahloul University Hospital, LR12SP11

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PHENOTYPE-GENOTYPE CORRELATIONS IN PRIMARY HYPEROXALURIA TYPE 1: THE I244T, 33_34INSC AND G190R AGXT MUTATION

saoussen mdimegh
Thread initiator
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Reg: 5/13/2014 9:43:00 PM

Comment# 1



Comment added on 5/13/2014 10:05:00 PM 
     
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Most viewed poster for this congress
Poster: 7
Visits: 477
Title: SEVERE SYMPTOMATIC ACUTE HYPONATREMIA IN TRAUMATIC BRAIN INJURY RESPONDS VERY RAPIDLY SINGLE 15 MG DOSE OF TOLVAPTAN: A MAYO CLINIC HEALTH SYSTEM HOSPITAL EXPERIENCE - NEED FOR CAUTION WITH TOLVAPTAN IN YOUNGER PATIENTS WITH PRESERVED RENAL FUNCTION
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Centre: MAYO CLINIC, ROCHESTER & MAYO CLINIC HEALTH SYSTEM, EAU CLAIRE

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Visits: 123
Title: INDEPENDENT PKD1 AND TSC2 MUTATIONS CAUSE A PHENOTYPE DIFFERENT FROM THE TYPICAL CONTIGUOUS GENE SYNDROME
Authors: ROSER TORRA ,
Centre: FUNDACIO PUIGVERT


 








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