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)

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.

Academic Journal

Van Bergen, Nicole J; Crowston, Jonathan G.; Craig, Jamie E.; Burdon, Kathryn P.; Kearns, Lisa S.; Sharma, Shiwani; Hewitt, Alex W.; Mackey, David A.; Trounce, Ian A.

PLoS ONE. 10/23/2015, Vol. 10 Issue 10, p1-18. 18p.

EBSCOHost PDF Full Text (Gale Academic Onefile) Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Academic Journal

Van Bergen, Nicole J; Guo, Yiran; Al-Deri, Noraldin; Lipatova, Zhanna; Stanga, Daniela; Zhao, Sarah; Murtazina, Rakhilya; Gyurkovska, Valeriya; Pehlivan, Davut; Mitani, Tadahiro; Gezdirici, Alper; Antony, Jayne; Collins, Felicity; Willis, Mary J H; Coban Akdemir, Zeynep H; Liu, Pengfei; Punetha, Jaya; Hunter, Jill V; Jhangiani, Shalini N; Fatih, Jawid M

Brain: A Journal of Neurology. Jan2019, Vol. 142 Issue 1, p112-130. 19p.

Full Text (Oxford University Press) Full Text (OUP Near Archive) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.

Academic Journal

Bergen, Nicole J. Van; Walvekar, Adhish S.; Linster, Carole L.; Christodoulou, John; Van Bergen, Nicole J

Brain: A Journal of Neurology. May2022, Vol. 145 Issue 5, pe41-e42. 2p.

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

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Periodical

Alodaib, Ahmad; Sobreira, Nara; Gold, Wendy A; Riley, Lisa G; Van Bergen, Nicole J; Wilson, Meredith J; Bennetts, Bruce; Thorburn, David R; Boehm, Corinne; Christodoulou, John

European Journal of Human Genetics: EJHG; January 2016, Vol. 25 Issue: 1 p79-84, 6p

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

Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

Electronic Resource

Schönewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Møller, Rikke S; Dunø, Morten; Brøndum-Nielsen, Karen; Kaur, Simran; Van Bergen, Nicole J; Lunke, Sebastian; Eggers, Stefanie; Jespersgaard, Cathrine; Christodoulou, John; Tümer, Zeynep

Schönewolf-Greulich , B , Bisgaard , A-M , Møller , R S , Dunø , M , Brøndum-Nielsen , K , Kaur , S , Van Bergen , N J , Lunke , S , Eggers , S , Jespersgaard , C , Christodoulou , J & Tümer , Z 2019 , ' Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature ' , Clinical Genetics , vol. 95 , no. 2 , pp. 221-230 .

Open Access (OAIster)

Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

Academic Journal

Bergen, Nicole J Van; Ellery, Molly; Christodoulou, John; Van Bergen, Nicole J

Brain: A Journal of Neurology. Oct2020, Vol. 143 Issue 10, pe84-e84. 1p.

Full Text (Oxford University Press) Full Text (OUP Near Archive) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.

Academic Journal

Bergen, Nicole J Van; Linster, Carole L; Christodoulou, John; Van Bergen, Nicole J

Brain: A Journal of Neurology. Jul2020, Vol. 143 Issue 7, pe55-e55. 1p.

Full Text (Oxford University Press) Full Text (OUP Near Archive) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.

Academic Journal

Bergen, Nicole J Van; Christodoulou, John; Van Bergen, Nicole J

Brain: A Journal of Neurology. Apr2020, Vol. 143 Issue 4, pe30-e30. 1p.

Full Text (Oxford University Press) Full Text (OUP Near Archive) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

부산대학교 도서관

메일 발송