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3
Exploiting Semantic Connectivity in Redefined Data Representation for Image Retrieval 미리보기

회의자료

issue
2016 IEEE Second International Conference on Multimedia Big Data (BigMM) Multimedia Big Data (BigMM), 2016 IEEE Second International Conference on. :322-325 Apr, 2016
Author
Chen, Yi-Hui
Lu, Eric Jui-Lin
Lin, Sheng-Jia
DB Label
Database : IEEE Xplore Digital Library
원문보기
Full Text (IEEE) 
5
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish 미리보기

학술저널

issue
In Genetics in Medicine October 2021 23(10):1933-1943
Author
Lin, Sheng-Jia
Vona, Barbara
Barbalho, Patricia G.
Kaiyrzhanov, Rauan
Maroofian, Reza
Petree, Cassidy
Severino, Mariasavina
Stanley, Valentina
Varshney, Pratishtha
Bahena, Paulina
Alzahrani, Fatema
Alhashem, Amal
Pagnamenta, Alistair T.
Aubertin, Gudrun
Estrada-Veras, Juvianee I.
Hernández, Héctor Adrián Díaz
Mazaheri, Neda
Oza, Andrea
Thies, Jenny
Renaud, Deborah L.
Dugad, Sanmati
McEvoy, Jennifer
Sultan, Tipu
Pais, Lynn S.
Tabarki, Brahim
Villalobos-Ramirez, Daniel
Rad, Aboulfazl
Ambrose, J.C.
Arumugam, P.
Bleda, M.
Boardman-Pretty, F.
Boustred, C.R.
Brittain, H.
Caulfield, M.J.
Chan, G.C.
Fowler, T.
Giess, A.
Hamblin, A.
Henderson, S.
Hubbard, T.J.P.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Kousathanas, A.
Lahnstein, L.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
Maleady-Crowe, F.
Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A.C.
O‘Donovan, P.
Odhams, C.A.
Patch, C.
Perez-Gil, D.
Pereira, M.B.
Pullinger, J.
Rahim, T.
Rendon, A.
Rogers, T.
Savage, K.
Sawant, K.
Scott, R.H.
Siddiq, A.
Sieghart, A.
Smith, S.C.
Sosinsky, A.
Stuckey, A.
Tanguy, M.
Thomas, E.R.A.
Thompson, S.R.
Tucci, A.
Walsh, E.
Welland, M.J.
Williams, E.
Witkowska, K.
Wood, S.M.
Galehdari, Hamid
Ashrafzadeh, Farah
Sahebzamani, Afsaneh
Saeidi, Kolsoum
Torti, Erin
Elloumi, Houda Z.
Mora, Sara
Palculict, Timothy B.
Yang, Hui
Wren, Jonathan D.
Ben Fowler
Joshi, Manali
Behra, Martine
Burgess, Shawn M.
Nath, Swapan K.
Hanna, Michael G.
Kenna, Margaret
Merritt, J. Lawrence, II
Houlden, Henry
Karimiani, Ehsan Ghayoor
Zaki, Maha S.
Haaf, Thomas
Alkuraya, Fowzan S.
Gleeson, Joseph G.
Varshney, Gaurav K.
DB Label
Database : ScienceDirect
원문보기
Full Text (ScienceDirect O/A)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR)  원문복사신청 - FRIC 
7
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders 미리보기

학술저널

issue
BRAIN; NOV 10 2023, 21p.
Author
Kaiyrzhanov, Rauan
Rad, Aboulfazl
Lin, Sheng-Jia
Bertoli-Avella, Aida
Kallemeijn, Wouter W.
Godwin, Annie
Zaki, Maha S.
Huang, Kevin
Lau, Tracy
Petree, Cassidy
Efthymiou, Stephanie
Karimiani, Ehsan Ghayoor
Hempel, Maja
Normand, Elizabeth A.
Rudnik-Schoeneborn, Sabine
Schatz, Ulrich A.
Baggelaar, Marc P.
Ilyas, Muhammad
Sultan, Tipu
Alvi, Javeria Raza
Ganieva, Manizha
Fowler, Ben
Aanicai, Ruxandra
Tayfun, Gulsen Akay
Al Saman, Abdulaziz
Alswaid, Abdulrahman
Amiri, Nafise
Asilova, Nilufar
Shotelersuk, Vorasuk
Yeetong, Patra
Azam, Matloob
Babaei, Meisam
Monajemi, Gholamreza Bahrami
Mohammadi, Pouria
Samie, Saeed
Banu, Selina Husna
Basto, Jorge Pinto
Kortuem, Fanny
Bauer, Mislen
Bauer, Peter
Beetz, Christian
Garshasbi, Masoud
Issa, Awatif Hameed
Eyaid, Wafaa
Ahmed, Hind
Hashemi, Narges
Hassanpour, Kazem
Herman, Isabella
Ibrohimov, Sherozjon
Abdul-Majeed, Ban A.
Imdad, Maria
Isrofilov, Maksudjon
Kaiyal, Qassem
Khan, Suliman
Kirmse, Brian
Koster, Janet
Lourenco, Charles Marques
Mitani, Tadahiro
Moldovan, Oana
Murphy, David
Najafi, Maryam
Pehlivan, Davut
Rocha, Maria Eugenia
Salpietro, Vincenzo
Schmidts, Miriam
Shalata, Adel
Mahroum, Mohammad
Talbeya, Jawabreh Kassem
Taylor, Robert W.
Vazquez, Dayana
Vetro, Annalisa
Waterham, Hans R.
Zaman, Mashaya
Schrader, Tina A.
Chung, Wendy K.
Guerrini, Renzo
Lupski, James R.
Gleeson, Joseph
Suri, Mohnish
Jamshidi, Yalda
Bhatia, Kailash P.
Vona, Barbara
Schrader, Michael
Severino, Mariasavina
Guille, Matthew
Tate, Edward W.
Varshney, Gaurav K.
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) 
10
Evaluating the association of biallelic OGDHL variants with a clinically heterogeneous syndrome 미리보기

학술저널

issue
EUROPEAN JOURNAL OF HUMAN GENETICS; JAN 2024, 32 p439-p440, 2p. Supplement: 1
Author
Lin, Sheng-Jia
Vona, Barbara
Lau, Tracy
Maroofian, Reza
Varshney, Gaurav
DB Label
Database : Science Citation Index Expanded
원문보기
등재 - Web of Science  등재 - SCOPUS  조회 - Impact Factor (JCR) 
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