Associated Papers
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.
Garcia-Giralt N et al.
Human Genomics, 2024
A Rare Case of Penoscrotal Webbing and Extensive Hernias: An Anatomical Report With Genetic Insights.
Olson CM et al.
Cureus, 2023
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.
Zhou W et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
37076969 (PubMed )
Supplement: JBMR-38-896-s002.xlsx › S.Table4
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1
On the association between Chiari malformation type 1, bone mineral density and bone related genes.
Martínez-Gil N et al.
Bone Reports, 2022
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet2.docx
Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis.
Rocha-Braz MGM et al.
Journal of the Endocrine Society, 2020
ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity.
Rauch F et al.
Journal of Bone and Mineral Metabolism, 2019
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