Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)

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Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) - 最新文献

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X-linked frontometaphyseal dysplasia 1

Pub Date : 2024-07-13 DOI: 10.21508/1027-4065-2024-69-3-110-117 O. C. Mazur, S. V. Baiko, A. V. Kilchevsky, E. P. Mikhalenko, S. L. Morozov, Yu. S. Stankevich, T. S. Kursova, Yu. A. Poleshchuk

A rare variant of primary immunodeficiency with a STAT1 GOF defect in the practice of a pulmonologist

Pub Date : 2024-07-13 DOI: 10.21508/1027-4065-2024-69-3-125-131 Y. Mizernitskiy, I. E. Zorina, A. R. Shudueva, D. V. Bogdanova, D. Yukhacheva, M. Fadeeva, D. Pershin, Y. Rodina, A. Shcherbina

Mucolipidosis type IV in the practice of pediatricians and medical geneticists

Pub Date : 2024-07-13 DOI: 10.21508/1027-4065-2024-69-3-118-124 A. Semyachkina, E. A. Nikolaeva, E. Voskoboeva, R. G. Kuramagomedova, S. V. Bochenkov

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