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1.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34042254
2.
Primary failure of eruption: From molecular diagnosis to therapeutic management.
J Oral Biol Craniofac Res
; 13(2): 169-176, 2023.
Article
in English
| MEDLINE | ID: mdl-36654816
3.
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Front Physiol
; 14: 1130175, 2023.
Article
in English
| MEDLINE | ID: mdl-37228816
4.
Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations.
Genes Dis
; 11(5): 101303, 2024 Sep.
Article
in English
| MEDLINE | ID: mdl-38721411
5.
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
Methods Mol Biol
; 1922: 407-452, 2019.
Article
in English
| MEDLINE | ID: mdl-30838594
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