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Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.
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- Clinical Genetics, 2017, v. 92, n. 6, p. 624, doi. 10.1111/cge.13052
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- Article
Cognitive deficits in beta‐thalassemia major.
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- Acta Neurologica Scandinavica, 2000, v. 102, n. 3, p. 162, doi. 10.1034/j.1600-0404.2000.102003162.x
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- Article
Clinical features and magnesium levels: Novel insights in 15q11.2 BP1–BP2 copy number variants.
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- Journal of Intellectual Disability Research, 2023, v. 67, n. 7, p. 679, doi. 10.1111/jir.13038
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- Article