Alla Nikolaevna Semyachkina (A N Semyachkina)

Years Active: 2019-2021
Publications (10 Years): 3

This page only lists publications with an associated author ORCID identifier.

Publications

Alla Nikolaevna Semyachkina, Ekaterina Alexandrovna Nikolaeva, Nailya Mansurovna Galeeva, Alexander Vladimirovich Polyakov, Maria Andreevna Kurnikova, Vera Аlexandrovna Belova, Irina Valerievna Shulyakova, Ilya Sergeevich Dantsev, Goar Vladimirovna Dzhivanshiryan
Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases. F1000Research 10 (2021)
Alla Nikolaevna Semyachkina, Elena Yurievna Voskoboeva, Ekaterina Alexandrovna Nikolaeva, Ekaterina Yurievna Zakharova
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II). BMC medical genomics 14 (1) (2021)
Alla Nikolaevna Semyachkina, E Y Voskoboeva, E Y Zakharova, E A Nikolaeva, I V Kanivets, A D Kolotii, G V Baydakova, M N Kharabadze, R G Kuramagomedova, N V Melnikova
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl. BMC medical genetics 20 (1) (2019)

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