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Publications by M. L. Stitzel

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

Internal Medicine

English

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A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

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Loss-Of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes

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Autosomal Dominant Robinow Syndrome

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Autosomal Dominant Popliteal Pterygium Syndrome

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Homozygosity of the Autosomal Dominant Alzheimer Disease Presenilin 1 E280A Mutation

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Autosomal Dominant Amelogenesis Imperfecta Associated withENAMframeshift Mutation p.Asn36Ilefs56

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Autosomal Dominant Microcephaly---Lymphoedema-Chorioretinal Dysplasia Syndrome

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Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia With a Bartter-Like Syndrome

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A Novel Mutation of WFS1 Gene in a Japanese Man of Wolfram Syndrome With Positive Diabetes-Related Antibodies

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