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Publications by Ian J Cohen

A Germline or De Novo Mutation in Two Families With Gaucher Disease: Implications for Recessive Disorders

European Journal of Human Genetics

English

Prediction of High Risk Ewing's Sarcoma by Gene Expression Profiling

Cancer Research

Molecular Biology

English

Related publications

De Novo VHL Germline Mutation Detected in a Patient With Mild Clinical Phenotype of Von Hippel-Lindau Disease

Journal of Neurosurgery

English

Germline Mutation of RET Codon 883 in Two Cases of De Novo MEN 2B

Cancer Research

Molecular Biology

English

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

Multidisciplinary

English

Endocrine and Metabolic Disorders in Patients With Gaucher Disease Type 1: A Review

Orphanet Journal of Rare Diseases

English

Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?

Acta Haematologica

English

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 De Novo Deletion in a Patient With Van Den Ende-Gupta Syndrome

Molecular Syndromology

English

A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families

Journal of Human Genetics

English

A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease

American Journal of Human Genetics

English

Toward Understanding De Novo Germline Mutations in Mammals

Genes and Genetic Systems

Molecular Biology

English