Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
Long-term follow-up in osteogenesis imperfecta type VI.
Trejo P et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
Wang JY et al.
Calcified Tissue International, 2017
Normal bone density and fat mass in heterozygous SERPINF1 mutation carriers.
Al-Jallad H et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Select a paper to view details