Search Results - Skoblov, Mikhail Y

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  1. 1
    Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test

    Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test by Nazarenko, Maria S, Viakhireva, Iuliia V, Skoblov, Mikhail Y, Soloveva, Elena V, Sleptcov, Aleksei A, Nazarenko, Ludmila P

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  2. 2
    X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation

    X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation by Milovidova, T.B., Schagina, O.A., Freire, M.V., Demina, N.A., Filatova, A.Y., Skoblov, M.Y., Stepanova, A.A., Chuhrova, A.L., Polyakov, A.V.

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  3. 3
    Splice‐site variant in the RPS7 5′‐UTR leads to a decrease in the mRNA level and development of Diamond‐Blackfan anemia

    Splice‐site variant in the RPS7 5′‐UTR leads to a decrease in the mRNA level and development of Diamond‐Blackfan anemia by Skorodumova, Liubov O., Davydenko, Ksenia A., Filatova, Alexandra Y., Skoblov, Mikhail Yu, Kulemin, Nikolay A., Khadzhieva, Maryam B., Zakharova, Elena S., Gordeeva, Veronika D., Smetanina, Nataliya S., Fedyushkina, Irina V., Anastasevich, Lyudmila A., Larin, Sergey S.

    Published in Clinical genetics
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    The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins

    The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins by Baranova, Ancha, Ivanov, Dmitry, Petrash, Nadezda, Pestova, Anya, Skoblov, Mikhail, Kelmanson, Ilya, Shagin, Dmitry, Nazarenko, Svetlana, Geraymovych, Elena, Litvin, Oxana, Tiunova, Anya, Born, Timothy L, Usman, Natalia, Staroverov, Dmitry, Lukyanov, Sergey, Panchin, Yury

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