Lista de obras -

A congenital neutrophil defect syndrome associated with mutations in VPS45.

artículo científico publicado en 2013

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center

scientific article published on 24 July 2018

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).

artículo científico publicado en 2008

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

artículo científico publicado en 2019

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center

artículo científico publicado en 2017

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease

artículo científico publicado en 2012

Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

scientific article published on 09 March 2020

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

artículo científico publicado en 2017

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.

artículo científico publicado en 2017

Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis

artículo científico publicado en 2010

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

artículo científico publicado en 2009

Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments.

artículo científico publicado en 2017

Prospective Evaluation of Kidney Disease in Joubert Syndrome

artículo científico publicado en 2017

Skeletal muscle magnetic resonance biomarkers in GNE myopathy

artículo científico publicado en 2020

The secretory small GTPase Rab27B as a marker for breast cancer progression

artículo científico publicado en 2010

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

artículo científico publicado en 2020

Lista de obras de

A congenital neutrophil defect syndrome associated with mutations in VPS45.

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease

Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase.

Effect of the secretory small GTPase Rab27B on breast cancer growth, invasion, and metastasis

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments.

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Skeletal muscle magnetic resonance biomarkers in GNE myopathy

The secretory small GTPase Rab27B as a marker for breast cancer progression

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development