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A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5647, doi. 10.3390/ijms24065647
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- Article
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 10, p. 5851, doi. 10.3390/ijms23105851
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- Article
Mucopolysaccharidosis-Plus Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020421
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- Article
Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype.
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- Clinical Genetics, 2023, v. 103, n. 6, p. 625, doi. 10.1111/cge.14319
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- Article
HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45418-3
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- Article