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Publications by Débora Bertola
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Related publications
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
American Journal of Human Genetics
Genetics
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Acrodysostosis - A Rare Skeletal Dysplasia
Journal of Evolution of Medical and Dental sciences
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
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P71 Skeletal Dysplasia- Case Report of an Infant With Thanatophoric Dysplasia
Bi-Allelic Inactivating Variants in the COCH Gene Cause Autosomal Recessive Prelingual Hearing Impairment
European Journal of Human Genetics
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RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
American Journal of Human Genetics
Genetics
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
