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Publications by Deborah Krakow
Bent Bone Dysplasia-Fgfr2 Type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development Due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Genes Uniquely Expressed in Human Growth Plate Chondrocytes Uncover a Distinct Regulatory Network
BMC Genomics
Biotechnology
Genetics
Skeletal Dysplasias
Clinics in Perinatology
Gynecology
Child Health
Pediatrics
Perinatology
Obstetrics
DominantTRPV4mutations in Nonlethal and Lethal Metatropic Dysplasia
American Journal of Medical Genetics, Part A
Genetics
