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X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. Miyake N, et al. Among authors: micha d. Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26. Neurogenetics. 2017. PMID: 28842795 Free PMC article.
Key4OI Recommendations for Lung Function Guidance in Osteogenesis Imperfecta: Based on an Internationally Performed Comprehensive International Consortium for Health Outcomes Measurement Procedure.
Chaney H, Mekking D, De Bakker D, Beeri E, Eekhoff EMW, Franken A, Kamp O, Micha D, Barreiros C, Tomlow B, van den Aardweg JG, LoMauro A, Folkestad L. Chaney H, et al. Among authors: micha d. Chest. 2023 May;163(5):1201-1213. doi: 10.1016/j.chest.2022.12.047. Epub 2023 Jan 12. Chest. 2023. PMID: 36640996
Bone Microarchitecture and Strength Changes During Teriparatide and Zoledronic Acid Treatment in a Patient with Pregnancy and Lactation-Associated Osteoporosis with Multiple Vertebral Fractures.
Treurniet S, Bevers MSAM, Wyers CE, Micha D, Teunissen BP, Elting MW, van den Bergh JP, Eekhoff EMW. Treurniet S, et al. Among authors: micha d. Calcif Tissue Int. 2023 May;112(5):621-627. doi: 10.1007/s00223-023-01066-3. Epub 2023 Feb 10. Calcif Tissue Int. 2023. PMID: 36764958 Free PMC article.
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.
Storoni S, Celli L, Zhytnik L, Maasalu K, Märtson A, Kõks S, Khmyzov S, Pashenko A, Maugeri A, Zambrano A, Celli M, Eekhoff EMW, Micha D. Storoni S, et al. Among authors: micha d. Eur J Med Genet. 2023 Nov;66(11):104857. doi: 10.1016/j.ejmg.2023.104857. Epub 2023 Sep 26. Eur J Med Genet. 2023. PMID: 37758164 Free article.
The intricate mechanism of PLS3 in bone homeostasis and disease.
Zhong W, Pathak JL, Liang Y, Zhytnik L, Pals G, Eekhoff EMW, Bravenboer N, Micha D. Zhong W, et al. Among authors: micha d. Front Endocrinol (Lausanne). 2023 Jul 7;14:1168306. doi: 10.3389/fendo.2023.1168306. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37484945 Free PMC article. Review.
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