Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variantsBajaj, Anjali ; Senthivel, Vigneshwar ; Bhoyar, Rahul ; Jain, Abhinav ; Imran, Mohamed ; Rophina, Mercy ; Divakar, Mohit Kumar ; Jolly, Bani ; Verma, Ankit ; Mishra, Anushree ; Sharma, Disha ; Deepti, Siddharthan ; Sharma, Gautam ; Bansal, Raghav ; Yadav, Rakesh ; Scaria, Vinod ; Naik, Nitish ; Sivasubbu, SridharHuman genomics, 2022-08, Vol.16 (1), p.30-30, Article 30 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
2 |
Material Type: Artigo
|
![]() |
11th International HHT Scientific Conference: June 11–14, 2015 Captiva, Florida USAAngiogenesis (London), 2015-12, Vol.18 (4), p.525-575 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
3 |
Material Type: Artigo
|
![]() |
1269The SADS heart of the matter: a review of the sudden arrhythmic death syndrome (SADS) biobank - the cornerstone of a national strategyCarron, J ; O"brien, J ; Heverin, K ; Gallagher, M ; Fitzgibbon, M ; Fabre, A ; Mcgorrian, C ; Galvin, JEuropace (London, England), 2020-06, Vol.22 (Supplement_1) [Periódico revisado por pares]Texto completo disponível |
4 |
Material Type: Artigo
|
![]() |
14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature reviewBlake, Claire ; Widmeyer, Kimmie ; DAquila, Kristen ; Mochizuki, Aaron ; Smolarek, Teresa A. ; Pillay‐Smiley, Natasha ; Kim, Sun YoungAmerican journal of medical genetics. Part A, 2024-07, Vol.194 (7), p.e63604-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
5 |
Material Type: Artigo
|
![]() |
155 Evaluation of in silico tools and chat-GPT to determine the impact of missense variants of immune-related genes associated with immunotherapy outcomes for solid tumorsChoi, Yoonhee ; Jung, Chan Mi ; Kang, Grace ; Kim, Peter Haseok ; Chae, Lena ; Viveiros, Pedro Hermida deJournal for immunotherapy of cancer, 2023-11, Vol.11 (Suppl 1), p.A175-A175 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
6 |
Material Type: Artigo
|
![]() |
175 Very rare case of Noonan syndrome, type 2Gandaeva, LA ; Zhurkova, NV ; Basargina, EN ; Pushkov, AA ; Degtayreva, TD ; Miroshnichenko, VP ; Kondakova, OB ; Savostyanov, KVArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A74-A75 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
7 |
Material Type: Artigo
|
![]() |
1958-2008 : Presse subversive et art de la transgression sous la Vème RépubliqueFenouillet, PaulContemporary French and francophone studies, 2008-04, Vol.12 (2), p.255-264 [Periódico revisado por pares]RoutledgeTexto completo disponível |
8 |
Material Type: magazinearticle
|
![]() |
1993: Telcos Move into EntertainmentScreen international, 1993-10 (929), p.20London: Media Business InsightTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisKennedy, Adam D ; Pappan, Kirk L ; Donti, Taraka ; Delgado, Mauricio R ; Shinawi, Marwan ; Pearson, Toni S ; Lalani, Seema R ; Craigen, William E ; Sutton, V Reid ; Evans, Anne M ; Sun, Qin ; Emrick, Lisa T ; Elsea, Sarah HFrontiers in neuroscience, 2019-05, Vol.13, p.394-394 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
2005 MTNA National Conference Audio Recording FormThe American music teacher, 2005-04, Vol.54 (5), p.75 [Periódico revisado por pares]Cincinnati, Ohio: Music Teachers' National AssociationTexto completo disponível |