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Vol 21, No 4 (2022)
Newborn screening for primary immunodeficiencies as a way to detect syndromal disorders in neonates: a clinical case of 22q11.2DS syndrome
Efimova E.Y., Mukhina A.A., Balinova N.V., Matulevich S.A., Pershin D.E., Khoreva A.L., Marakhonov A.V., Voronin S.V., Zinchenko R.A., Shcherbina A.Y., Kutsev S.I.
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(Rus)
Vol 21, No 3 (2022)
Clinical and laboratory characteristics of a group of patients with ataxia-telangiectasia syndrome
Asekretova T.V., Anderzhanova L.H., Leontyeva M.E., Rodina Y.A., Panferova A.V., Alexenko M.Y., Pеrshin D.E., Khadzhieva M.B., Larin S.S., Raykina E.V., Lebedev V.V., Myakova N.V., Shcherbina A.Y., Deripapa E.V.
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(Rus)
Vol 21, No 2 (2022)
A familial case of Louis–Bar syndrome
Asekretova T.V., Sineokova A.V., Lebedev V.V., Rodina Y.A., Deripapa E.V.
PDF
(Rus)
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