A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2
2019 · Journal of Advanced Research · 14 citations
https://doi.org/10.1016/j.jare.2019.10.006
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Siraprapa Tongkobpetch
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Siraprapa Tongkobpetch is an academic researcher from Thai Red Cross Society. The author has contributed to research in topics: Connective tissue disorders research & Cleft Lip and Palate Research & Craniofacial Disorders and Treatments. The author has an h-index of 15, co-authored 50 publications.
Papers by this author
worksA LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases
2022 · Scientific Reports · 12 citations
https://doi.org/10.1038/s41598-022-19334-x
Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants
2023 · Scientific Reports · 10 citations
https://doi.org/10.1038/s41598-023-29924-y
Novel Variants and Phenotypes in <i>NEUROG3</i>-Associated Syndrome
2022 · The Journal of Clinical Endocrinology & Metabolism · 7 citations
https://doi.org/10.1210/clinem/dgac554
Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virus
2019 · Stem Cell Research · 4 citations
https://doi.org/10.1016/j.scr.2019.101493
A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents
2017 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.5634910
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