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Title
Authors
Vol 16, No 3 (2021)
Experience with the use of a ketogenic diet with type 1 glucose transporter deficiency (De Vivo disease)
Lyukshina N.G.
PDF
(Rus)
Vol 16, No 1-2 (2021)
Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report
Lyukshina N.G., Sharkov A.A., Tolmacheva E.N.
PDF
(Rus)
Vol 19, No 4 (2024)
Intellectual development disorder syndrome with congenital anomalies of type 99, faceted female (OMIM: 300968), updated mutation in the USP9X gene
Latypov A.S., Proskurin E.V., Sidorova O.P., Vasilenko I.A., Kassina D.V., Bunak M.S.
PDF
(Rus)
Vol 14, No 1 (2019)
Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1
Sharkova I.V., Akimova I.A., Khlebnikova O.V., Dadali E.L.
PDF
(Rus)
Vol 19, No 2 (2024)
Mitochondrial DNA depletion syndrome 13. A case report
Golosnaya G.S., Krasnorutskaya O.N., Ermolenko N.A., Efimova V.L., Larionova T.A., Subbotin D.M., Feklistov D.A., Tysyachina M.D.
PDF
(Rus)
Vol 12, No 1 (2017)
Delayed speech development in children: Introduction to terminology
Bobylova M.Y., Braudo T.E., Kazakova M.V., Vinyarskaya I.V.
PDF
(Rus)
Vol 18, No 1 (2023)
CTNNB1 syndrome (CTNNB1-NDD) in a child with cerebral palsy: a case report
Golosnaya G.S., Ermolenko N.A., Krasnorutskaya O.N., Efimova V.L., Larionova T.A., Tysyachina M.D.
PDF
(Rus)
Vol 11, No 3 (2016)
THE MITOCHONDRIAL DISEASE NARP SYNDROME IN THE PRACTICE OF A PEDIATRIC NEUROLOGIST
Shishkina E.V., Barkhatov M.V., Borisova E.V., Falalaleeva S.O., Shchekaleva N.A., Makarevskaya N.Y., Chubko M.A.
PDF
(Rus)
Vol 17, No 2 (2022)
Jacobsen syndrome. Literature review and a case report
Syrkina A.V., Chebanenko N.V., Zykov V.P., Mikhailova N.S.
PDF
(Rus)
Vol 11, No 2 (2016)
EPILEPSY CAUSED BY PCDH19 GENE MUTATION: A REVIEW OF LITERATURE AND THE AUTHORS’ OBSERVATIONS
Mukhin K.Y., Pylaeva O.A., Dolinina A.F., Moiseeva S., Verbitskaya Y.V., Petrukhin A.S., Kluger G., Holthausen H., Staudt M.
PDF
(Rus)
Vol 15, No 3-4 (2020)
Hopantomide in pediatric neurological practice: outlooks
Pylaeva O.A.
PDF
(Rus)
Vol 14, No 2 (2019)
Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report
Lyukshina N.G.
PDF
(Rus)
1 - 12 of 12 Items

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