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CLINICAL AND HISTOPATHOLOGICAL FINDINGS IN JALILI SYNDROME.
Franca M, Providência J, Castela G, Patrício D, Sousa IS, Ambrósio AF, Alves CH, Marques JP. Franca M, et al. Ophthalmol Retina. 2024 Nov 8:S2468-6530(24)00531-1. doi: 10.1016/j.oret.2024.11.002. Online ahead of print. Ophthalmol Retina. 2024. PMID: 39522753
Severe neurodevelopmental phenotype, diagnostic, and treatment challenges in patients with SECISBP2 deficiency.
Stoupa A, Franca MM, Abdulhadi-Atwan M, Fujisawa H, Korwutthikulrangsri M, Marchand I, Polak G, Beltrand J, Polak M, Kariyawasam D, Liao XH, Raimondi C, Steigerwald C, Abreu NJ, Bauer AJ, Carré A, Taneja C, Mekhoubad AB, Dumitrescu AM. Stoupa A, et al. Among authors: franca mm. Genet Med. 2024 Sep 21;26(12):101280. doi: 10.1016/j.gim.2024.101280. Online ahead of print. Genet Med. 2024. PMID: 39315526 Free article.
649 results