Cathepsin-C (CTSC) Gene Mutations in Papillon-Lefevre Syndrome in India.
Bone Mineral Density and Bone Microarchitecture in a Cohort of Patients with Erdheim-Chester Disease
Exome sequencing for diagnosis of congenital hemolytic anemia
The expression of BAFF in the muscles correlate with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies
Best practice guidelines for management of spinal disorders in skeletal dysplasia
Identification of Four Novel Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease
Sickle cell disease in Sri Lanka: Clinical and molecular basis and the unanswered questions about disease severeity.
A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China
The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients
Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
© Research Square 2020