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Publications by Heather J. Stalker
Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia
American Journal of Human Genetics
Genetics
Related publications
Campomelic Dysplasia With Dextrocardia and Without Sex-Reversal
Archive of Clinical Cases
Molecular Cloning of the Breakpoints of a Complex Philadelphia Chromosome Translocation: Identification of a Repeated Region on Chromosome 17.
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Acrodysostosis - A Rare Skeletal Dysplasia
Journal of Evolution of Medical and Dental sciences
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
P71 Skeletal Dysplasia- Case Report of an Infant With Thanatophoric Dysplasia
Screening of the 1 Mb SOX9 5' Control Region by Array CGH Identifies a Large Deletion in a Case of Campomelic Dysplasia With XY Sex Reversal
Journal of Medical Genetics
Genetics
Familial Fibromuscular Dysplasia of Bilateral Brachial Arteries
Heart
Cardiovascular Medicine
Cardiology
Statin Therapy for Skeletal Dysplasia
Nature Reviews Endocrinology
Endocrinology
Metabolism
Diabetes
The Bone Dysplasia Ontology: Integrating Genotype and Phenotype Information in the Skeletal Dysplasia Domain
BMC Bioinformatics
Biochemistry
Applied Mathematics
Computer Science Applications
Structural Biology
Molecular Biology
