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Molecular diagnosis in a cohort of 114 patients with rare s..:

Silveira, Karina C. ; Kanazawa, Thatiane Y. ; Silveira, Cynthia...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  187 (2021)  3 - p. 396-408 , 2021
Link: https://doi.org/10.1002/ajmg.c.31937