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Publications by Russell J. Butterfield

Clinical, Genetic, and Pathologic Characterization of FKRP Mexican Founder Mutation C.1387A>G

Neurology: Genetics

English

Clinical Trial Readiness to Solve Barriers to Drug Development in FSHD (ReSolve): Protocol of a Large, International, Multi-Center Prospective Study

English

Related publications

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic C.2991+1655A>G Mutation in CEP290

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization

English

Clinical and Genetic Analysis of ZTTK Syndrome Caused by SON Heterozygous Mutation C.394C>T

Molecular genetics & genomic medicine

Molecular Biology

English

SNP Markers for the Genetic Characterization of Mexican Shrimp Broodstocks

English

Clinical, Genetic, and Biophysical Characterization of a Homozygous HERG Mutation Causing Severe Neonatal Long QT Syndrome

Pediatric Research

English

Genomic Analysis of Inherited Breast Cancer Among Palestinian Women: Genetic Heterogeneity and a Founder Mutation in TP53

International Journal of Cancer

Cancer Research

English

77 C/G Mutation in the Tyrosine Phosphatase CD45 Gene and Autoimmune Hepatitis: Evidence for a Genetic Link

Genes and Immunity

English

Analysis of Clinical Characteristics of Breast Cancer Patients With the Japanese Founder Mutation BRCA1 L63X

English

Metastases Risk in Thin Cutaneous Melanoma: Prognostic Value of Clinical-Pathologic Characteristics and Mutation Profile

English