학술논문

	o	ㅋ	ㄱ	ㅅ	ㅈ	ㅌ	ㄷ	촉	ㄴ	ㅎ	ㅂ	ㅃ	ㅁ	야	ㄹ	와
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
ㅜ	う u	ぅ	く ku	ぐ gu	す su	ず zu	つ tu	づ du	っ	ぬ nu	ふ hu	ぶ bu	ぷ pu	む mu	ゆ yu	ゅ lyu	る ru
ㅔ	え e	ぇ	け ke	げ ge	せ se	ぜ ze	て te	で de		ね ne	へ he	べ be	ぺ pe	め me			れ re
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

	o	ㅋ	ㄱ	ㅅ	ㅈ	ㅌ	ㄷ	촉	ㄴ	ㅎ	ㅂ	ㅃ	ㅁ	야	ㄹ	와
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

독일어
ä	Ä	ö	Ö	ü	Ü	ß
프랑스어
á	à	Á	À	é	è	É	È	ç	Ç	ê
스페인어
à	á	Á	é	É	í	Í	Ó	ó	Ú	ú	Ñ	ñ	ä	Ä

발행년	- (예 : 2010-2015)

전체선택

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Academic Journal

Matalonga, L; Hernandez-Ferrer, C; Piscia, D; Schule, R; Synofzik, M; Topf, A; Vissers, LELM; de Voer, R; Tonda, R; Laurie, S; Fernandez-Callejo, M; Pico, D; Garcia-Linares, C; Papakonstantinou, A; Corvo, A; Joshi, R; Diez, H; Gut, I; Hoischen, A; Graessner, H; Beltran, S

European journal of human genetics : EJHG. 29(9):1337-1347

Full Text (ProQuest Central) Open Access (SwePub) Open Access (EBSCO) Web of Science JCR 저널정보 Find it@PNU

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

Academic Journal

Figueroa-Bonaparte, S; Hudson, J; Barresi, R; Polvikoski, T; Williams, T; Töpf, A; Harris, E; Hilton-Jones, D; Petty, R; Willis, T A; Longman, C; Dougan, C F; Parton, M J; Hanna, M G; Quinlivan, R; Farrugia, M E; Guglieri, M; Bushby, K; Straub, V; Lochmüller, H; Evangelista, T

Journal of Neurology, Neurosurgery & Psychiatry. Jun 01, 2016 87(6):680-681

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

C - reactive protein is a promising indicator of ventricular arrhythmias in pacemaker patients.

Academic Journal

Jirak, P; Mirna, M; Wernly, B; Hinterbuchner, L; Hauptmann, L; Fejzic, D; Topf, A; Lichtenauer, M; Hoppe, U; Hoefer, K; Schernthaner, C; Motloch, L

European Heart Journal: Acute Cardiovascular Care; 2022 Supplement, Vol. 11, p1-1, 1p

Full Text (Oxford University Press) Web of Science JCR 저널정보 Scopus Find it@PNU

Congenital titinopathy: comprehensive characterisation & pathogenic insights

Electronic Resource

Oates, E; Jones, K; Donkervoort, S; Charlton, A; Brammah, S; Smith, J; Ware, J; Yau, K; Swanson, L; Whiffin, N; Peduto, A; Bournazos, A; Waddell, L; Farrar, M; Sampaio, H; Teoh, H; Lamont, P; Mowat, D; Fitzsimmons, R; Corbett, A; Ryan, M; O'Grady, G; Sandaradura, S; Ghaoui, R; Joshi, H; Marshall, J; Nolan, M; Kaur, S; Punetha, J; Topf, A; Harris, E; Bakshi, M; Genetti, C; Marttila, M; Werkauff, U; Streichenberger, N; Pestronk, A; Mazanti, I; Pinner, J; Vuillerot, C; Grosmann, C; Camacho, A; Mohassel, P; Leach, M; Foley, A; Bharucha-Goeber, D; Collins, J; Connolly, A; Gilbreath, H; Iannaccone, S; Castro, D; Cummings, B; Webster, R; Lazaro, L; Vissing, J; Coppens, S; Deconinck, N; Luk, H; Thomas, N; Foulds, N; Illingworth, M; Ellard, S; McLean, C; Phadke, R; Ravenscroft, G; Witting, N; Hackman, P; Clarke, N; Lek, M; Beggs, A; Bonnemann, C; MacArthur, D; Granzier, H; Davis, M; Laing, N

Open Access (OAIster)

TDP43-Varianten bei autosomal dominanter distaler Myopathie

Periodical

Zibold, J; Wiessner, M; Topf, A; Petiot, P; Stucka, R; Dusl, M; Krause, S; Schoser, B; Walter, MC; Straub, V; Urtizberea, A; Klopstock, T; Senderek, J

Nervenheilkunde; May 2019, Vol. 38 Issue: 5

Scopus Find it@PNU

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

Electronic Resource

Griffin, H R; Töpf, A; Glen, E; Zweier, C; Stuart, A G; Parsons, J; Peart, I; Deanfield, J; O'Sullivan, J; Rauch, A; Scambler, P; Burn, J; Cordell, H J; Keavney, B; Goodship, J A

Griffin, H R; Töpf, A; Glen, E; Zweier, C; Stuart, A G; Parsons, J; Peart, I; Deanfield, J; O'Sullivan, J; Rauch, A; Scambler, P; Burn, J; Cordell, H J; Keavney, B; Goodship, J A (2010). Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart, 96(20):1651-1655.

Open Access (OAIster)

부산대학교 도서관

메일 발송