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Publications by Débora Romeo Bertola
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
Noonan Syndrome: A Clinical and Genetic Study of 31 Patients
Revista do Hospital das Clínicas
Related publications
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy
American Journal of Human Genetics
Genetics
RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
American Journal of Human Genetics
Genetics
Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases
Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
Genetics
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
