Primary Immune Deficiency Diseases
Records 1 - 4 (of 4 Records) |
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Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases. Sabir Ataf et al. British medical bulletin 2021 |
Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions. Cottard Marie et al. Bone 2019 Dec 115218 |
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. Wu Calvin C et al. The Journal of clinical endocrinology and metabolism 2017 102(9) 3111-3123 |
The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis. Shamriz O et al. Clinical genetics 2017 Jul 92(1) 80-85 |