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

Volltext

Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia von Filatova, Alexandra Y., Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Voskresenskaya, Anna A., Zinchenko, Rena A., Skoblov, Mikhail Y.

Volltext

Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles von Zernov, Nikolay V., Skoblov, Mikhail Y., Marakhonov, Andrey V., Shimomura, Yutaka, Vasilyeva, Tatyana A., Konovalov, Fedor A., Abrukova, Anna V., Zinchenko, Rena A.

Volltext

Upstream ORF frameshift variants in the PAX6 5MODIFIER LETTER PRIMEUTR cause congenital aniridia von Filatova, Alexandra Y., Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Voskresenskaya, Anna A., Zinchenko, Rena A., Skoblov, Mikhail Y.

Volltext

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 von 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.

Volltext

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

Volltext

The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins von 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

Volltext

Studies of the functional topography of Escherichia coli RNA polymerase: a method for localization of the sites of affinity labelling von GRACHEV, M. A, LUKHTANOV, E. A, MUSTAEV, A. A, ZAYCHIKOV, E. F, ABDUKAYUMOV, M. N, RABINOV, I. V, RICHTER, V. I, SKOBLOV, Y. S, CHISTYAKOV, P. G

Volltext

DEVICE FOR SHAPING BACK OF WELD von SKOBLOV KONSTANTIN N,SU, PARKHIMOVICH EDUARD M,SU, KULISH MIKHAIL YA,SU, ATAMANOV SERGEJ G,SU, CHERVYAKOVA IRINA V,SU, TSUMAREV YURIJ A,SU, KUZNETSOV STEFAN V,SU

Volltext bestellen

TOOL FOR EXTRUDING HOLLOW PROFILES von TSAJ ALBERT F,SU, MOSYAGIN YURIJ V,SU, ZAKHAROV MIKHAIL F,SU, MASYUKOV IOSIF N,SU, SKOBLOV LEONID S,SU, SHAPIRO VADIM YA,SU, SOROKIN NIKOLAJ A,SU

Volltext bestellen