P113 Duplication 15q11-q13 syndrome in patients with autism spectrum disorder: 5 new cases
Kondakova, OB, Grebenkin, DI, Zhurkova, NV, Batysheva, TT, Vashakmadze, N
Published in Archives of disease in childhood (01.06.2019)
Published in Archives of disease in childhood (01.06.2019)
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Journal Article
175 Very rare case of Noonan syndrome, type 2
Gandaeva, LA, Zhurkova, NV, Basargina, EN, Pushkov, AA, Degtayreva, TD, Miroshnichenko, VP, Kondakova, OB, Savostyanov, KV
Published in Archives of disease in childhood (11.10.2021)
Published in Archives of disease in childhood (11.10.2021)
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Journal Article
81 Pitt-Hopkins syndrome
Kondakova, OB, Grebenkin, DI, Zhurkova, NV, Batysheva, TT, Lialina, AA, Khrustaleva, EV, Kanivets, IV
Published in Archives of disease in childhood (11.10.2021)
Published in Archives of disease in childhood (11.10.2021)
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P14 Congenital disorder of glycosylation ib type (CDG IB): 2 cases of diagnostics and treatment
Migali, AV, Kazakova, KA, Zhurkova, NV, Mitish, MD, Studenikin, VM, Akoev, YuS
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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P79 Clinical case of rare chromosome pathology: combined deletion 7p21.1-p15.2 and deletion 22q12.1 in patient with mental retardation
Namazova-Baranova, LS, Savostyanov, KV, Vashkamadze, ND, Zhurkova, NV, Pushkov, AA, Polunina, TA
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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P77 1P36 deletion syndrome in children with cardiomyopathy: two clinical cases
Zhurkova, NV, Pushkov, AA, Savostyanov, KV, Basargina, EN, Pakhomov, AV, Ermolenko, VS, Derevianina, YV
Published in Archives of disease in childhood (01.06.2017)
Published in Archives of disease in childhood (01.06.2017)
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