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: "Veltra, Danai"]
총 50건 
※ 중복 레코드가 제거된 검색 결과가 표시됩니다.
1/5 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 (48)
    • Magazines (2)

    재검색

  • 주제
    • phenotype (6)
    • diagnostic yield (5)
    • genetic variation (5)

    더보기

    재검색

  • Lexile Range
    • 1301-1500+ (3)
    • 1101-1300 (1)

    재검색

  • 간행물
    • european journal of human genetics (7)
    • genes (7)
    • expert review of molecular diagnostics (6)

    더보기

    재검색

  • 출판사
    • mdpi (10)
    • springernature (7)
    • taylor & francis ltd (5)

    더보기

    재검색

  • 언어
    • english (48)

    재검색

  • Publication Year
    • 2023 (2)
    • 2021 (1)
    • 2024 (1)

    재검색

  • 수록데이터베이스
    • Science Citation Index Expanded (17)
    • MEDLINE (12)
    • Complementary Index (11)

    더보기

    재검색

  • PQDTSearch
  • CAJSearch
  • RISSSearch
  • PsycINFOSearch

 

1
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals 미리보기

학술저널

issue
EUROPEAN JOURNAL OF HUMAN GENETICS; APR 27 2024, 10p.
Author
Layo-Carris, Dana E.
Lubin, Emily E.
Sangree, Annabel K.
Clark, Kelly J.
Durham, Emily L.
Gonzalez, Elizabeth M.
Smith, Sarina
Angireddy, Rajesh
Wang, Xiao Min
Weiss, Erin
Mendoza-Londono, Roberto
Dupuis, Lucie
Damseh, Nadirah
Velasco, Danita
Valenzuela, Irene
Codina-Sola, Marta
Ziats, Catherine
Have, Jaclyn
Clarkson, Katie
Steel, Dora
Kurian, Manju
Barwick, Katy
Carrasco, Diana
Dagli, Aditi I.
Nowaczyk, M. J. M.
Hancarova, Miroslava
Bendova, Sarka
Prchalova, Darina
Sedlacek, Zdenek
Baxova, Alica
Nowak, Catherine Bearce
Douglas, Jessica
Chung, Wendy K.
Longo, Nicola
Platzer, Konrad
Kloeckner, Chiara
Averdunk, Luisa
Wieczorek, Dagmar
Krey, Ilona
Zweier, Christiane
Reis, Andre
Balci, Tugce
Simon, Marleen
Kroes, Hester Y.
Wiesener, Antje
Vasileiou, Georgia
Marinakis, Nikolaos M.
Veltra, Danai
Sofocleous, Christalena
Kosma, Konstantina
Synodinos, Joanne Traeger
Voudris, Konstantinos A.
Vuillaume, Marie-Laure
Gueguen, Paul
Derive, Nicolas
Colin, Estelle
Battault, Clarisse
Au, Billie
Delatycki, Martin
Wallis, Mathew
Gallacher, Lyndon
Majdoub, Fatma
Smal, Noor
Weckhuysen, Sarah
Schoonjans, An-Sofie
Kooy, R. Frank
Meuwissen, Marije
Cocanougher, Benjamin T.
Taylor, Kathryn
Pizoli, Carolyn E.
McDonald, Marie T.
James, Philip
Roeder, Elizabeth R.
Littlejohn, Rebecca
Borja, Nicholas A.
Thorson, Willa
King, Kristine
Stoeva, Radka
Suerink, Manon
Nibbeling, Esther
Baskin, Stephanie
Guyader, Gwenael L. E.
Kaplan, Julie
Muss, Candace
Carere, Deanna Alexis
Bhoj, Elizabeth J. K.
Bryant, Laura M.
DB Label
Database : Science Citation Index Expanded
원문보기
등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
10
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders 미리보기

학술저널

issue
BRAIN; FEB 9 2023, 16p.
Author
Saffari, Afshin
Lau, Tracy
Tajsharghi, Homa
Karimiani, Ehsan Ghayoor
Kariminejad, Ariana
Efthymiou, Stephanie
Zifarelli, Giovanni
Sultan, Tipu
Toosi, Mehran Beiraghi
Sedighzadeh, Sahar
Siu, Victoria Mok
Dario Ortigoza-Escobar, Juan
AlShamsi, Aisha M.
Ibrahim, Shahnaz
Al-Sannaa, Nouriya Abbas
Al-Hertani, Walla
Sandra, Whalen
Tarnopolsky, Mark
Alavi, Shahryar
Li, Chumei
Day-Salvatore, Debra-Lynn
Jesus Martinez-Gonzalez, Maria
Levandoski, Kristin M.
Bedoukian, Emma
Madan-Khetarpal, Suneeta
Idleburg, Michaela J.
Menezes, Minal Juliet
Siddharth, Aishwarya
Platzer, Konrad
Oppermann, Henry
Smitka, Martin
Collins, Felicity
Lek, Monkol
Shahrooei, Mohmmad
Ghavideldarestani, Maryam
Herman, Isabella
Rendu, John
Faure, Julien
Baker, Janice
Bhambhani, Vikas
Calderwood, Laurel
Akhondian, Javad
Imannezhad, Shima
Mirzadeh, Hanieh Sadat
Hashemi, Narges
Doosti, Mohammad
Safi, Mojtaba
Ahangari, Najmeh
Torbati, Paria Najarzadeh
Abedini, Soheila
Salpietro, Vincenzo
Gulec, Elif Yilmaz
Eshaghian, Safieh
Ghazavi, Mohammadreza
Pascher, Michael T.
Vogel, Marina
Abicht, Angela
Moutton, Sebastien
Bruel, Ange-Line
Rieubland, Claudine
Gallati, Sabina
Strom, Tim M.
Lochmueller, Hanns
Mohammadi, Mohammad Hasan
Alvi, Javeria Raza
Zackai, Elaine H.
Keena, Beth A.
Skraban, Cara M.
Berger, Seth, I
Andrew, Erin H.
Rahimian, Elham
Morrow, Michelle M.
Wentzensen, Ingrid M.
Millan, Francisca
Henderson, Lindsay B.
Dafsari, Hormos Salimi
Jungbluth, Heinz
Gomez-Ospina, Natalia
McRae, Anne
Peter, Merlene
Veltra, Danai
Marinakis, Nikolaos M.
Sofocleous, Christalena
Ashrafzadeh, Farah
Pehlivan, Davut
Lemke, Johannes R.
Melki, Judith
Benezit, Audrey
Bauer, Peter
Weis, Denisa
Lupski, James R.
Senderek, Jan
Christodoulou, John
Chung, Wendy K.
Goodchild, Rose
Offiah, Amaka C.
Moreno-De-Luca, Andres
Suri, Mohnish
Ebrahimi-Fakhari, Darius
Houlden, Henry
Maroofian, Reza
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (OUP)  등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
1 2 3 4 5 
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.
  • 87573
  • 128776304