ORIGINAL RESEARCH
Published on 28 Jun 2022
An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease
doi 10.3389/fendo.2022.874126
- 3,266 views
- 1 citation
- Frontiers in Endocrinology
- Bone Research
- Research Topics
- Novel Insights into the Diagnosis and Treatment of Skeletal Dysplasia
Novel Insights into the Diagnosis and Treatment of Skeletal Dysplasia
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Articles
CASE REPORT
Published on 13 Jun 2022
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
doi 10.3389/fendo.2022.862908
- 1,833 views
- 2 citations
ORIGINAL RESEARCH
Published on 24 Mar 2022
Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study
doi 10.3389/fendo.2022.866170
- 3,265 views
- 18 citations
ORIGINAL RESEARCH
Published on 03 Mar 2022
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
doi 10.3389/fendo.2022.845889
- 2,006 views
- 2 citations
