8 results on '"Makitie, Outi"'
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2. RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature
3. Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report
4. The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study
5. Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
6. Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
7. Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes
8. Neonatal, severe primary hyperparathyroidism: a 7-year clinical and radiological follow-up of one patient
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