Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Marie-Claire Gubler

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

American Journal of Human Genetics

English

Correction: A Homozygous KAT2B Variant Modulates the Clinical Phenotype of ADD3 Deficiency in Humans and Flies

Molecular Biology

Cancer Research

English

Progressive Podocyte Injury and Globotriaosylceramide (GL-3) Accumulation in Young Patients With Fabry Disease

Kidney International

English

Maternal Environment Interacts With Modifier Genes to Influence Progression of Nephrotic Syndrome

Journal of the American Society of Nephrology : JASN

English

Podocin Localizes in the Kidney to the Slit Diaphragm Area

American Journal of Pathology

Forensic Medicine

English

Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and During Normal Kidney Development

American Journal of Pathology

Forensic Medicine

English