Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
To read more please click on the link below. Read Article
Day: May 18, 2021
Hypophosphatasia presenting as musculoskeletal pain: a case series of 12 adults presenting to general rheumatology clinic
To read more please click on the link below. Read Article
Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia
To read more please click on the link below. Read Article
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals
To read more please click on the link below. Read Article
Vitamin B6 deficiency with normal plasma levels of pyridoxal 5′-phosphate in perinatal hypophosphatasia
To read more please click on the link below. Read Article
Biological stenciling of mineralization in the skeleton: Local enzymatic removal of inhibitors in the extracellular matrix
To read more please click on the link below. Read Article
