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Publications by Renee Cooksley

Neurocognitive and Neuropsychiatric Phenotypes Associated With the Mutation L238Q of the Α-L-Iduronidase Gene in Hurler–Scheie Syndrome

Molecular Genetics and Metabolism

Molecular Biology

English

Related publications

Rare Cases of Classical Hurler-Scheie Syndrome

International Journal of Contemporary Pediatrics

English

873 Α-L-Iduronidase IN LEUKOCTYES AND PLASMA: ISOZYMES OF INTEREST IN BONE MARROW TRANSPLANTATION FOR HURLER SYNDROME

Pediatric Research

English

Rare Cases of Mucopolysaccharidosis Type I in Children With Hurler and Hurler-Scheie Syndromes

Russian Ophthalmological Journal

English

Α-L-Iduronidase (IDUA)

Science-Business eXchange

English

Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

Diagnostic Pathology

Forensic Medicine

English

Diversity of Mutations and Distribution of Single Nucleotide Polymorphic Alleles in the Human Α-L-Iduronidase (IDUA) Gene

Genetics in Medicine

English

Retinal Overload Individualized During Hurler-Scheie Disease: Case Study Observations

English

MEK-ERK Pathway Modulation Ameliorates Disease Phenotypes in a Mouse Model of Noonan Syndrome Associated With the Raf1L613V Mutation

Journal of Clinical Investigation

English

A Schizophrenia Risk Gene, ZNF804A, Influences Neuroanatomical and Neurocognitive Phenotypes

Neuropsychopharmacology

English