共 50 条
- [42] PERINATAL SEVERE OSTEOGENESIS IMPERFECTA TYPE VIII DUE TO A NOVEL HOMOZYGOUS LEUCINE PROLINE-ENRICHED PROTEOGLYCAN 1 (LEPRE1) MUTATION: A CASE REPORT. HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 92 - 92
- [43] Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2 Osteoporosis International, 2018, 29 : 1643 - 1651
- [47] A BOY WITH SEVERE SHORT STATURE AND AUTOIMMUNE DISEASES DUE TO A NOVEL HOMOZYGOUS MISSENSE MUTATION IN STAT5B GENE HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 306 - 307
- [50] Severe Clinical and Neurological manifestations in an Indian Glutaric Acidemia type I patient due to a novel mutation in the Glutaryl-CoA dehydrogenase gene RESEARCH JOURNAL OF BIOTECHNOLOGY, 2020, 15 (04): : 82 - 85