Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
Non-coding genetic variants in human diseaseZhang, Feng ; Lupski, James RHuman molecular genetics, 2015-10, Vol.24 (R1), p.R102-R110 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
2 |
Material Type: Revista
|
![]() |
Human Molecular GeneticsENGLAND Oxford University PressAcesso online. A biblioteca também possui exemplares impressos. |
3 |
Material Type: Artigo
|
![]() |
Universal heteroplasmy of human mitochondrial DNAPayne, Brendan A I ; Wilson, Ian J ; Yu-Wai-Man, Patrick ; Coxhead, Jonathan ; Deehan, David ; Horvath, Rita ; Taylor, Robert W ; Samuels, David C ; Santibanez-Koref, Mauro ; Chinnery, Patrick FHuman molecular genetics, 2013-01, Vol.22 (2), p.384-390 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
4 |
Material Type: Artigo
|
![]() |
The International Human Genome ProjectBirney, EwanHuman molecular genetics, 2021-10, Vol.30 (R2), p.R161-R163 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
5 |
Material Type: Artigo
|
![]() |
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instabilityLe Guen, Tangui ; Jullien, Laurent ; Touzot, Fabien ; Schertzer, Michael ; Gaillard, Laetitia ; Perderiset, Mylène ; Carpentier, Wassila ; Nitschke, Patrick ; Picard, Capucine ; Couillault, Gérard ; Soulier, Jean ; Fischer, Alain ; Callebaut, Isabelle ; Jabado, Nada ; Londono-Vallejo, Arturo ; de Villartay, Jean-Pierre ; Revy, PatrickHuman molecular genetics, 2013-08, Vol.22 (16), p.3239-3249 [Periódico revisado por pares]England: Oxford University Press (OUP)Texto completo disponível |
6 |
Material Type: Artigo
|
![]() |
Multiple evidence strands suggest that there may be as few as 19,000 human protein-coding genesEzkurdia, Iakes ; Juan, David ; Rodriguez, Jose Manuel ; Frankish, Adam ; Diekhans, Mark ; Harrow, Jennifer ; Vazquez, Jesus ; Valencia, Alfonso ; Tress, Michael LHuman molecular genetics, 2014-11, Vol.23 (22), p.5866-5878 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
7 |
Material Type: Artigo
|
![]() |
Lyso-Gb3 activates Notch1 in human podocytesSanchez-Niño, Maria D ; Carpio, Daniel ; Sanz, Ana Belen ; Ruiz-Ortega, Marta ; Mezzano, Sergio ; Ortiz, AlbertoHuman molecular genetics, 2015-10, Vol.24 (20), p.5720-5732 [Periódico revisado por pares]EnglandTexto completo disponível |
8 |
Material Type: Artigo
|
![]() |
Human FMRP contains an integral tandem Agenet (Tudor) and KH motif in the amino terminal domainMyrick, Leila K. ; Hashimoto, Hideharu ; Cheng, Xiaodong ; Warren, Stephen T.Human molecular genetics, 2015-03, Vol.24 (6), p.1733-1740 [Periódico revisado por pares]United States: Oxford University PressTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
Drug screening for human genetic diseases using iPSC modelsElitt, Matthew S ; Barbar, Lilianne ; Tesar, Paul JHuman molecular genetics, 2018-08, Vol.27 (R2), p.R89-R98 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
Central dogma rates in human mitochondriaMcShane, Erik ; Churchman, L StirlingHuman molecular genetics, 2024-05, Vol.33 (R1), p.R34-R41 [Periódico revisado por pares]EnglandTexto completo disponível |