전남대학교 중앙도서관

  • 중앙도서관
  • 여수캠퍼스도서관
  • 법학도서관
  • 치의학도서관
  • 의학도서관

링크메뉴

  • 화면키우기 화면줄이기 화면크기 원래대로
  • S
  • HOME
  • 로그인
  • 전남대
  • ENG
  • CHN

주메뉴

전체메뉴

전자자료 상세검색

전자자료 상세검색

통합검색
상세검색
검색어 [키워드: "Alrohaif, H."]
총 9건 
※ 중복 레코드가 제거된 검색 결과가 표시됩니다.
1/1 페이지 RSS 엑셀파일 출력
검색결과수정
  • 검색범위확장
    • Full Text내 키워드 확장
    • 관련 주제어 확장

    재검색

  • 검색결과제한
    • 원문(Full Text)
    • Peer-Reviewed 학술지
    • 발행년 -

    재검색

  • 자료유형
    • Academic Journals (10)

    재검색

  • 주제
    • muscular diseases (2)
    • adaptor proteins, signal transducing (1)
    • annotations (1)

    더보기

    재검색

  • 간행물
    • neuromuscular disorders (3)
    • brain a journal of neurology (1)
    • european journal of human genetics (1)

    더보기

    재검색

  • 출판사
    • elsevier b.v. (2)
    • edk (1)
    • frontiers media sa (1)

    더보기

    재검색

  • 언어
    • english (9)
    • french (1)

    재검색

  • 수록데이터베이스
    • MEDLINE (5)
    • Science Citation Index Expanded (3)
    • Academic Search Complete (1)

    더보기

    재검색

  • PQDTSearch
  • CAJSearch
  • RISSSearch
  • PsycINFOSearch

 

3
Expansion of the Gene Ontology knowledgebase and resources 미리보기

학술저널

issue
NUCLEIC ACIDS RESEARCH; JAN 4 2017, 45 D1, pD331-pD338, 8p.
Author
Carbon, S.
Dietze, H.
Lewis, S. E.
Mungall, C. J.
Munoz-Torres, M. C.
Basu, S.
Chisholm, R. L.
Dodson, R. J.
Fey, P.
Thomas, P. D.
Mi, H.
Muruganujan, A.
Huang, X.
Poudel, S.
Hu, J. C.
Aleksander, S. A.
McIntosh, B. K.
Renfro, D. P.
Siegele, D. A.
Antonazzo, G.
Attrill, H.
Brown, N. H.
Marygold, S. J.
McQuilton, P.
Ponting, L.
Millburn, G. H.
Rey, A. J.
Stefancsik, R.
Tweedie, S.
Falls, K.
Schroeder, A. J.
Courtot, M.
Osumi-Sutherland, D.
Parkinson, H.
Roncaglia, P.
Lovering, R. C.
Foulger, R. E.
Huntley, R. P.
Denny, P.
Campbell, N. H.
Kramarz, B.
Patel, S.
Buxton, J. L.
Umrao, Z.
Deng, A. T.
Alrohaif, H.
Mitchell, K.
Ratnaraj, F.
Omer, W.
Rodriguez-Lopez, M.
Chibucos, M. C.
Giglio, M.
Nadendla, S.
Duesbury, M. J.
Koch, M.
Meldal, B. H. M.
Melidoni, A.
Porras, P.
Orchard, S.
Shrivastava, A.
Chang, H. Y.
Finn, R. D.
Fraser, M.
Mitchell, A. L.
Nuka, G.
Potter, S.
Rawlings, N. D.
Richardson, L.
Sangrador-Vegas, A.
Young, S. Y.
Blake, J. A.
Christie, K. R.
Dolan, M. E.
Drabkin, H. J.
Hill, D. P.
Ni, L.
Sitnikov, D.
Harris, M. A.
Hayles, J.
Oliver, S. G.
Rutherford, K.
Wood, V.
Bahler, J.
Lock, A.
De Pons, J.
Dwinell, M.
Shimoyama, M.
Laulederkind, S.
Hayman, G. T.
Tutaj, M.
Wang, S. -J.
D'Eustachio, P.
Matthews, L.
Balhoff, J. P.
Balakrishnan, R.
Binkley, G.
Cherry, J. M.
Costanzo, M. C.
Engel, S. R.
Miyasato, S. R.
Nash, R. S.
Simison, M.
Skrzypek, M. S.
Weng, S.
Wong, E. D.
Feuermann, M.
Gaudet, P.
Berardini, T. Z.
Li, D.
Muller, B.
Reiser, L.
Huala, E.
Argasinska, J.
Arighi, C.
Auchincloss, A.
Axelsen, K.
Argoud-Puy, G.
Bateman, A.
Bely, B.
Blatter, M. -C.
Bonilla, C.
Bougueleret, L.
Boutet, E.
Breuza, L.
Bridge, A.
Britto, R.
Hye-A-Bye, H.
Casals, C.
Cibrian-Uhalte, E.
Coudert, E.
Cusin, I.
Duek-Roggli, P.
Estreicher, A.
Famiglietti, L.
Gane, P.
Garmiri, P.
Georghiou, G.
Gos, A.
Gruaz-Gumowski, N.
Hatton-Ellis, E.
Hinz, U.
Holmes, A.
Hulo, C.
Jungo, F.
Keller, G.
Laiho, K.
Lemercier, P.
Lieberherr, D.
MacDougall, A.
Magrane, M.
Martin, M. J.
Masson, P.
Natale, D. A.
O'Donovan, C., V
Pedruzzi, I.
Pichler, K.
Poggioli, D.
Poux, S.
Rivoire, C.
Roechert, B.
Sawford, T.
Schneider, M.
Speretta, E.
Shypitsyna, A.
Stutz, A.
Sundaram, S.
Tognolli, M.
Wu, C.
Xenarios, I.
Yeh, L. -S.
Chan, J.
Gao, S.
Howe, K.
Kishore, R.
Lee, R.
Li, Y.
Lomax, J.
Muller, H. -M.
Raciti, D.
Van Auken, K.
Berriman, M.
Stein, L.
Kersey, Paul
Sternberg, P. W.
Howe, D.
Westerfield, M.
Gene Ontology Consortium
DB Label
Database : Science Citation Index Expanded
원문보기
Open Access (OUP)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
5
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. 미리보기

학술저널

issue
Brain : a journal of neurology [Brain] 2023 Oct 03; Vol. 146 (10), pp. 4200-4216.
Author
Roos A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
van der Ven PFM; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Alrohaif H; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Kuwait Medical Genetics Center, Sabah Hospital, Kuwait City, Kuwait.
Kölbel H; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Heil L; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Della Marina A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, 52074 Aachen, Germany.
Aßent M; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Barresi R; San Camillo IRCCS, 30126 Venezia - Lido, Italy.
Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.
O'Connor K; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.
Sickmann A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
Kohlschmidt N; Institute of Clinical Genetics and Tumour Genetics, 53111 Bonn, Germany.
El Gizouli M; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Meyer N; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Daya N; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
Grande V; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Bois K; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Vorgerd M; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
Schröder C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Schara-Schmidt U; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Gangfuss A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.
Evangelista T; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, 75013 Paris, France.
Röbisch L; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
Hentschel A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
Grüneboom A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.
Fuerst DO; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.
Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Tzschach A; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany.
Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Lochmüller H; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, K1H 8L1, Canada.
DB Label
Database : MEDLINE
원문보기
Full Text (OUP)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
7
[When all roads lead to Africa…].
Quand tous les chemins mènent à l’Afrique…. 미리보기

학술저널

issue
Medecine sciences : M/S [Med Sci (Paris)] 2019 Nov; Vol. 35 Hors série n° 2, pp. 15-17. Date of Electronic Publication: 2019 Dec 20.
Author
Urtizberea JA; Centre de compétence neuromusculaire, 64700 Hendaye, France.
Alrohaif H; Kuwait Medical Genetic Centre, Kuwait.
Gouda SA; Kuwait Medical Genetic Centre, Kuwait.
Bastaki L; Kuwait Medical Genetic Centre, Kuwait.
DB Label
Database : MEDLINE
원문보기
등재 - Web of Science (SCIE)  조회 - Impact Factor (JCR) 
8
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. 미리보기

학술저널

issue
Muscle & nerve [Muscle Nerve] 2018 Nov; Vol. 58 (5), pp. 700-707. Date of Electronic Publication: 2018 Oct 03.
Author
Alrohaif H; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Kuwait Medical Genetics Centre, Sabah Health District, Shuwaikh, Kuwait.
Pogoryelova O; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.
Al-Ajmi A; Department of Neurology, Jahra Hospital, Jahra, Kuwait.
Aljeryan LA; Kuwait Medical Genetics Centre, Sabah Health District, Shuwaikh, Kuwait.
Alrashidi NH; Kuwait Medical Genetics Centre, Sabah Health District, Shuwaikh, Kuwait.
Alefasi SA; Kuwait Medical Genetics Centre, Sabah Health District, Shuwaikh, Kuwait.
Urtizberea A; Centre Neuromusculaire, Filnemus, Hopital Marin, Hendaye, France.
Lochmüller H; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK.; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center-University of Freiburg, Mathildenstrasse 1, Freiburg, 79160, Germany.; Centro Nacional de Análisis Genómico, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Bastaki L; Kuwait Medical Genetics Centre, Sabah Health District, Shuwaikh, Kuwait.
DB Label
Database : MEDLINE
원문보기
Full Text (Wiley-DB)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
9
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. 미리보기

학술저널

issue
Neurology. Genetics [Neurol Genet] 2018 Mar 19; Vol. 4 (2), pp. e226. Date of Electronic Publication: 2018 Mar 19 (Print Publication: 2018).
Author
Alrohaif H; MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Töpf A; MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Evangelista T; MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Lek M; MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
McArthur D; MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
Lochmüller H; MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.
DB Label
Database : MEDLINE
원문보기
Full Text (LWW - Ovid)  Open Access (PubMed Central)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
1 
바구니보기

QUICK LINK

  • 희망도서신청
  • 대출/연장조회
  • 서가부재도서
  • 이용교육

마이메뉴추가

QRCode
  • 개인정보호정책
  • 이메일무단수집거부
  • 도서관이용문의

    • 도서관자치위원회  원격제어  Instagram  facebook  w  kakao 플친
500-757 광주광역시 북구 용봉로 77 TEL 062)530-3571~2(대출반납실) FAX 062)530-3529
Copyright@2013 CHONNAM NATIONAL UNIVERSITY LIBRARY, All Rights Reserved.
  • 81027
  • 126840375