Search filters

List of works by Gemma Bullich

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

article

Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression

article

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

scientific article published on 18 May 2018

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome

scientific article published on 17 March 2011

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

scientific article

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

scientific article

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).

scientific article published on 9 September 2017

HLA-DQA1 and PLA2R1 polymorphisms and risk of idiopathic membranous nephropathy.

scientific article

Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity

scientific article published on 30 June 2020

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated

scientific article published on 17 June 2015

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).

scientific article published on 14 September 2017

MO070CLINICAL AND GENETIC FEATURES IN A LARGE SPANISH COHORT WITH HETEROZYGOUS MUTATIONS IN COL4A3-COL4A4 GENES

article

MYH9 Associated nephropathy

scientific article published on 22 November 2018

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

scientific article

Paulina is supported by:

About Paulina

Help