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Publications by Barbara K Stubblefield

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

European Journal of Human Genetics

English

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

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

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

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

Orphanet Journal of Rare Diseases

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

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

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

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

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Toward Understanding De Novo Germline Mutations in Mammals

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