List of works - William A Gahl

A congenital neutrophil defect syndrome associated with mutations in VPS45.

scientific article published on 05 June 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).

scientific article

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

scientific article published on 24 May 2019

Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease ⬇️

scientific article published on October 3, 2012

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

scientific article published on 3 November 2017

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.

scientific article published on March 2017

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

scientific article published in June 2017

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

scientific article

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

scientific article

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

scientific article published on 27 November 2017

Prospective Evaluation of Kidney Disease in Joubert Syndrome

scientific article published on 16 November 2017

Skeletal muscle magnetic resonance biomarkers in GNE myopathy

scientific article published on 20 November 2020

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

scientific article

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

scientific article published on 16 June 2020

List of works by William A Gahl

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 Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease ⬇️

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

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