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21 ensaios clínicos encontrados, 6 ativos.
Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.
Hog1/p38 and ZAKα drive Shwachman-Diamond syndrome and provide targets to improve cell growth.
Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature.
Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.
Case Report: A case report and literature review of shwachman-diamond syndrome concurrent with klinefelter syndrome.