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Publications by Darrin P Smith

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

Cancer Research

Molecular Biology

English

Related publications

Over-Representation of a Germline RET Sequence Variant in Patients With Sporadic Medullary Thyroid Carcinoma and Somatic RET Codon 918 Mutation

Cancer Research

Molecular Biology

English

Child With Ret Proto-Oncogene Codon 634 Mutation

Turkish Journal of Pediatrics

English

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

European Journal of Human Genetics

English

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

Multidisciplinary

English

Kindred With Prominent Corneal Nerves Associated With a Mutation in Codon 804 of RET on Chromosome 10q11

Archives of Ophthalmology

English

Nine Novel Germline Gene Variants in the RET Proto-Oncogene Identified in Twelve Unrelated Cases

Journal of Molecular Diagnostics

Forensic Medicine

Molecular Medicine

English

Toward Understanding De Novo Germline Mutations in Mammals

Genes and Genetic Systems

Molecular Biology

English

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

Journal of Neurosurgery

English

High Penetrance of Pheochromocytoma in Multiple Endocrine Neoplasia 2 Caused by Germ Line RET Codon 634 Mutation in Japanese Patients

European Journal of Endocrinology

English