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Publications by David J. Bernard

Spectrum of Mutations in the OCRL1Gene in the Lowe Oculocerebrorenal Syndrome

American Journal of Human Genetics

English

Proliferative Defect and Embryonic Lethality in Mice Homozygous for a Deletion in the P110α Subunit of Phosphoinositide 3-Kinase

Journal of Biological Chemistry

Molecular Biology

English

Related publications

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

English

The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

Molecular Biology

Structural Biology

English

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies

American Journal of Human Genetics

English

Expanding the Spectrum of IDH1 Mutations in Gliomas

Modern Pathology

Forensic Medicine

English

Spectrum of Mutations in the Batten Disease Gene, CLN3

American Journal of Human Genetics

English

Kabuki Syndrome: A Chinese Case Series and Systematic Review of the Spectrum of Mutations

BMC Medical Genetics

English

The Mutational Spectrum of Lynch Syndrome in Cyprus

Multidisciplinary

English

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

American Journal of Human Genetics

English

Mutations in the Nijmegen Breakage Syndrome Gene in Medulloblastomas

Clinical Cancer Research

Cancer Research

English