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Publications by Vivian J Bardwell
Oculofaciocardiodental and Lenz Microphthalmia Syndromes Result From Distinct Classes of Mutations in BCOR
Nature Genetics
Genetics
Related publications
Novel Mutations in BCOR in Three Patients With Oculo-Facio-Cardio-Dental Syndrome, but None in Lenz Microphthalmia Syndrome
European Journal of Human Genetics
Genetics
Pathogenic Variants in the X‐linked BCOR Gene Cause Two Different Syndromes
Acta Ophthalmologica
Medicine
Ophthalmology
Novel Mutations in PXDN Cause Microphthalmia and Anterior Segment Dysgenesis
European Journal of Human Genetics
Genetics
Mutations Within Helix I of Twist1 Result in Distinct Limb Defects and Variation of DNA Binding Affinities
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Defective Cardiac Ion Channels: From Mutations to Clinical Syndromes
Journal of Clinical Investigation
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Cantu Syndrome-Associated SUR2 (ABCC9) Mutations in Distinct Structural Domains Result in KATPchannel Gain-Of-Function by Differential Mechanisms
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
The Escherichia Coli Mutant Requiring D-Glutamic Acid Is the Result of Mutations in Two Distinct Genetic Loci.
Journal of Bacteriology
Microbiology
Molecular Biology
Mutations and Karyotype Predict Treatment Response in Myelodysplastic Syndromes
American Journal of Hematology
Hematology
Two Classes of Extragenic Suppressor Mutations Identify Functionally Distinct Regions of the GroEL Chaperone of Escherichia Coli.
Journal of Bacteriology
Microbiology
Molecular Biology