학술논문

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ㅏ	あ a	ぁ	か ka	が ga	さ sa	ざ za	た ta	だ da		な na	は ha	ば ba	ぱ pa	ま ma	や ya	ゃ lya	ら ra	わ wa	ゎ lwa	ん n
l	い i	ぃ	き ki	ぎ gi	し si	じ zi	ち ti	ぢ di		に ni	ひ hi	び bi	ぴ pi	み mi			り ri
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ㅗ	お o	ぉ	こ ko	ご go	そ so	ぞ zo	と to	ど do		の no	ほ ho	ぼ bo	ぽ po	も mo	よ yo	ょ lyo	ろ ro	を wo

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ㅏ	ア a	ァ	カ ka	ガ ga	サ sa	ザ za	タ ta	ダ da		ナ na	ハ ha	バ ba	パ pa	マ ma	ヤ ya	ャ lya	ラ ra	ワ wa	ヮ lwa		ン n
l	イ i	ィ	キ ki	ギ gi	シ si	ジ zi	チ ti	ヂ di		ニ ni	ヒ hi	ビ bi	ピ pi	ミ mi			リ ri
ㅜ	ウ u	ゥ	ク ku	グ gu	ス su	ズ zu	ツ tu	ヅ du	ッ	ヌ nu	フ hu	ブ bu	プ pu	ム mu	ユ yu	ュ lyu	ル ru			ヴ vu
ㅔ	エ e	ェ	ケ ke	ゲ ge	セ se	ゼ ze	テ te	デ de		ネ ne	ヘ he	ベ be	ぺ pe	メ me			レ re
ㅗ	オ o	ォ	コ ko	ゴ go	ソ so	ゾ zo	ト to	ド do		ノ no	ホ ho	ボ bo	ポ po	モ mo	ヨ yo	ョ lyo	ロ ro	ヲ wo		ーー

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발행년	- (예 : 2010-2015)

Clinico-radiological characteristics of two patients with geroderma osteodysplasticum caused by new nucleotide variants in the GORAB gene

Academic Journal

Merkuryeva, E.S.; Markova, T.V.; Kuchina, A.S.; Ryzhkova, O.P.; Dadali, E.L.; Kenis, V.M.; Semyachkina, A.N.; Nikolaeva, E.А.; Bochenkov, S.V.; Doroshchuk, N.A.

In: Rossiyskiy Vestnik Perinatologii i Pediatrii. (Rossiyskiy Vestnik Perinatologii i Pediatrii, 2024, 69(1):86-93)

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A rare combination of monogenic connective tissue diseases - Marfan and Stickler syndromes - in one patient

Academic Journal

Nikolaeva, E.А.; Semyachkina, A.N.; Dzhivanshiryan, G.V.; Shcherbakova, N.V.; Smirnova, A.V.

In: Rossiyskiy Vestnik Perinatologii i Pediatrii. (Rossiyskiy Vestnik Perinatologii i Pediatrii, 2022, 67(4):93-98)

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Clinical manifestations of Angelman syndrome in children

Academic Journal

Gorchkhanova, Z.K.; Nikolaeva, E.А.; Bochenkov, S.V.; Belousova, E.D.

In: Rossiyskiy Vestnik Perinatologii i Pediatrii. (Rossiyskiy Vestnik Perinatologii i Pediatrii, 2021, 66(6):63-70)

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The classic type of ehlers–danlos syndrome: Differential diagnosis and peculiarities of patient management

Academic Journal

Semyachkina, A.N.; Nikolaeva, E.А.; Zabrodina, А.R.; Melikyan, L.P.

In: Pediatriya - Zhurnal im G.N. Speranskogo. (Pediatriya - Zhurnal im G.N. Speranskogo, 2021, 100(5):62-69)

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Emotional and personal characteristics of adolescents with Ehlers-Danlos syndrome

Academic Journal

Troitskaya, L.A.; Surkova, K.L.; Semyachkina, A.N.; Nikolaeva, E.А.

In: Rossiyskiy Vestnik Perinatologii i Pediatrii. (Rossiyskiy Vestnik Perinatologii i Pediatrii, 2021, 66(2):101-104)

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Geno-phenotypic characteristics of Ehlers–Danlos syndrome: Difficulties of disease type identification and approaches to pathogenetic treatment

Academic Journal

Nikolaeva, E.А.; Semyachkina, A.N.

In: Rossiyskiy Vestnik Perinatologii i Pediatrii. (Rossiyskiy Vestnik Perinatologii i Pediatrii, 2021, 66(1):22-30)

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Alpha-mannosidosis in children: Analysis of the observations and treatment options

Academic Journal

Semyachkina, A.N.; Nikolaeva, E.А.; Dantseva, M.А.; Voskoboeva, E.Yu.; Zakharova, E.Yu.

In: Rossiyskiy Vestnik Perinatologii i Pediatrii. (Rossiyskiy Vestnik Perinatologii i Pediatrii, 2020, 65(4):142-149)

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The structure of hereditary diseases in children hospitalized in a specialized clinic

Academic Journal

Nikolaeva, E.А.; Bochenkov, S.V.; Dantsev, I.S.; Kuramagomedova, R.G.; Blokhina, M.А.; Zabrodina, A.R.; Kharabadze, M.N.

In: Rossiyskiy Vestnik Perinatologii i Pediatrii. (Rossiyskiy Vestnik Perinatologii i Pediatrii, 2019, 64(5):21-26)

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High-performance DNA sequencing to identify genetically determined diseases in pediatric practice

Academic Journal

Voinova, V.Yu.; Nikolaeva, E.А.; Shсherbakova, N.V.; Yuablonskaya, M.I.

In: Rossiyskiy Vestnik Perinatologii i Pediatrii. (Rossiyskiy Vestnik Perinatologii i Pediatrii, 2019, 64(1):103-109)

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