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Publications by John Rendu

From Lowe Syndrome to Dent Disease: Correlations Between Mutations of the OCRL1 Gene and Clinical and Biochemical Phenotypes

English

A National French Consensus on Gene Lists for the Diagnosis of Myopathies Using Next-Generation Sequencing

European Journal of Human Genetics

English

Related publications

Comparison of Clinical Findings Between Lowe Syndrome and Dent Disease With OCRL 1 Mutation

Nihon Shoni Jinzobyo Gakkai Zasshi

English

The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

Molecular Biology

Structural Biology

English

Lowe Syndrome Protein OCRL1 Supports Maturation of Polarized Epithelial Cells

Multidisciplinary

English

The Expanding Spectrum of Clinical Phenotypes Associated With PSTPIP1 Mutations: From PAPA to PAMI Syndrome and Beyond

British Journal of Dermatology

English

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

American Journal of Human Genetics

English

Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome

American Journal of Human Genetics

English

Unstable Mutations in the FMR1 Gene and the Phenotypes

Advances in Experimental Medicine and Biology

Molecular Biology

English

Fabry Disease: Twenty Novel Α-Galactosidase a Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes

Molecular Medicine

Molecular Medicine

Molecular Biology

English

Correlations Between Female Breast Density and Biochemical Markers

Journal of Physical Therapy Science

Physical Therapy

English