Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test
Nazarenko, Maria S, Viakhireva, Iuliia V, Skoblov, Mikhail Y, Soloveva, Elena V, Sleptcov, Aleksei A, Nazarenko, Ludmila P
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Published in International journal of molecular sciences (17.08.2022)
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Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia
Filatova, Alexandra Y., Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Voskresenskaya, Anna A., Zinchenko, Rena A., Skoblov, Mikhail Y.
Published in Human mutation (01.08.2021)
Published in Human mutation (01.08.2021)
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Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
Zernov, Nikolay V., Skoblov, Mikhail Y., Marakhonov, Andrey V., Shimomura, Yutaka, Vasilyeva, Tatyana A., Konovalov, Fedor A., Abrukova, Anna V., Zinchenko, Rena A.
Published in Journal of investigative dermatology (01.06.2016)
Published in Journal of investigative dermatology (01.06.2016)
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