Roser Torra
Torra Balcells, Roser
Torra i Balcells, Roser
VIAF ID: 87161976 (Personal)
Permalink: http://viaf.org/viaf/87161976
Preferred Forms
- 100 0 _ ‡a Roser Torra
-
- 100 1 0 ‡a Torra i Balcells, Roser
- 100 1 _ ‡a Torra i Balcells, Roser
4xx's: Alternate Name Forms (3)
Works
Title | Sources |
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Anàlisi clínica, genètica i molecular de la poliquistosi renal autosòmica dominant | |
Clinical profile of women diagnosed with Fabry disease non receiving enzyme replacement therapy | |
Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome | |
[Collagen IV (alpha3-alpha4) nephropathy] | |
Contribution of the TTC21B gene to glomerular and cystic kidney diseases. | |
A coordinated transition model for patients with cystinosis: from pediatrics to adult care. | |
Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis | |
Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial. | |
Expert consensus guidelines for the genetic diagnosis of Alport syndrome | |
Fabry Nephropathy: An Evidence-Based Narrative Review. | |
[The Fabry's disease] | |
Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies | |
[Familial benign hematuria] | |
Foreword | |
Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples | |
Genetic variation of DKK3 may modify renal disease severity in ADPKD. | |
HLA-DQA1 and PLA2R1 polymorphisms and risk of idiopathic membranous nephropathy. | |
How genomics reclassifies diseases: the case of Alport syndrome | |
Hypertension in Polycystic Kidney Disease Types 1 and 2 and Its Effect on the Age of Onset of End-Stage Renal Disease | |
Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement | |
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations | |
Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients | |
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated | |
Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS). | |
Interfamilial and intrafamilial variability of clinical expression in ADPKD. | |
International Multi-Specialty Delphi Survey: Identification of Diagnostic Criteria for Hepatic and Renal Cyst Infection. | |
Location of mutations within the PKD2 gene influences clinical outcome. | |
Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients | |
Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype | |
Molecular study of idiopathic nephnephrotic syndrome | |
[Mutational analysis of the PKD1 and PKD2 | |
MYH9 Associated nephropathy | |
Nefropatía tubulointersticial autosómica dominante | |
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis | |
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature | |
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum | |
Patients with multiple myeloma requiring long-term dialysis: presenting features, response to therapy, and outcome in a series of 20 cases | |
Podocyturia: why it may have added value in rare diseases | |
PrEFiNe Plan: Strategic plan for Fabry diseases in Nephrology. | |
Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy | |
Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics | |
[Recommendations for the multidisciplinary management of tuberous sclerosis complex]. | |
Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy. | |
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. | |
[Renal hereditary diseases. The role of primary care] | |
Renal replacement therapy in ADPKD patients: a 25-year survey based on the Catalan registry. | |
Severe acute multi-organ complications in the 'primary' antiphospholipid syndrome: it is appropriate to use the 'catastrophic' adjective | |
Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease | |
Stem cell therapy for Alport syndrome: the hope beyond the hype | |
Sternoclavicular tuberculosis | |
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity | |
[Treatment of autosomal dominant polycystic kidney disease]. | |
UGA hopping: a sport for nephrologists too? | |
Unified criteria for ultrasonographic diagnosis of ADPKD. | |
An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document | |
Very low-molecular-mass fragments of albumin in the plasma of patients with focal segmental glomerulosclerosis | |
WT1 mutations may be a cause of severe renal failure due to nephroblastomatosis in Wilms' tumor patients | |
মুখবন্ধ |