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Publications by K. L. Neufeld

Understanding Phenotypic Variation in Rodent Models With Germline Apc Mutations

Cancer Research

Cancer Research

English

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Toward Understanding De Novo Germline Mutations in Mammals

Genes and Genetic Systems

Molecular Biology

English

Molecular and Phenotypic Abnormalities in Individuals With Germline Heterozygous PTEN Mutations and Autism

Molecular Psychiatry

Molecular Neuroscience

Molecular Biology

English

Phenotypic Expression in Von Hippel-Lindau Disease: Correlations With Germline VHL Gene Mutations.

Journal of Medical Genetics

English

Understanding the Phenotypic Impact of Non-Coding Sequence Variation

English

APC Mutations in Colorectal Tumors With Mismatch Repair Deficiency.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

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Rapidly Progressive Adenomatous Polyposis in a Patient With Germline Mutations in Both the APC and MLH1 Genes: The Worst of Two Worlds

Gastroenterology

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Mutations in USH2A in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa: High Prevalence and Phenotypic Variation

Journal of Medical Genetics

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Tracking Tumor Kinetics in Patients With Germline CYLD Mutations

Journal of the American Academy of Dermatology

English

Lifetime Cancer Risks in Individuals With Germline PTEN Mutations

Clinical Cancer Research

Cancer Research

English