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Publications by Bruce D. Gelb
Atenolol Versus Losartan in Children and Young Adults With Marfan's Syndrome
New England Journal of Medicine
Medicine
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
American Journal of Human Genetics
Genetics
RAS Signaling Pathway Mutations and Hypertrophic Cardiomyopathy: Getting Into and Out of the Thick of It
Journal of Clinical Investigation
Medicine
Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability
European Journal of Human Genetics
Genetics
Whole Genome De Novo Variant Identification With FreeBayes and Neural Network Approaches
PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
American Journal of Human Genetics
Genetics
Char Syndrome, an Inherited Disorder With Patent Ductus Arteriosus, Maps to Chromosome 6p12-P21
Circulation
Cardiovascular Medicine
Physiology
Cardiology
Characterization of Novel Cathepsin K Mutations in the Pro and Mature Polypeptide Regions Causing Pycnodysostosis
Journal of Clinical Investigation
Medicine
Collagenase Activity of Cathepsin K Depends on Complex Formation With Chondroitin Sulfate
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Isolation, Characterization, and Mapping of Four Novel Polymorphic Markers and an H3.3B Pseudogene to Chromosome 9p21-22
Journal of Human Genetics
Genetics