Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX femalesNielsen, Morten Muhlig ; Trolle, Christian ; Vang, Søren ; Hornshøj, Henrik ; Skakkebæk, Anne ; Hedegaard, Jakob ; Nordentoft, Iver ; Pedersen, Jakob Skou ; Gravholt, Claus HøjbjergAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.279-293Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
2 |
Material Type: Artigo
|
![]() |
A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21Li, Jin ; Xie, Mingshui ; Wang, Fang ; Ma, Jianhong ; Li, Jiafu ; Chen, Chen ; Li, Zhimin ; Wang, Juan ; Zhang, Yuanzhen ; Li, YirongMolecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1279-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
3 |
Material Type: Artigo
|
![]() |
Characterization and evolutionary implications of the triad Asp-Xxx-Glu in group II phosphopantetheinyl transferasesWang, Yue-Yue ; Li, Yu-Dong ; Liu, Jian-Bo ; Ran, Xin-Xin ; Guo, Yuan-Yang ; Ren, Ni-Ni ; Chen, Xin ; Jiang, Hui ; Li, Yong-Quan Jeltsch, AlbertPloS one, 2014-07, Vol.9 (7), p.e103031-e103031 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
4 |
Material Type: Artigo
|
![]() |
Cost-effectiveness of genotyping to guide treatmentSorich, Michael J ; Wiese, Michael D ; Pekarsky, BritaPharmacogenomics, 2014-04, Vol.15 (6), p.727-729 [Periódico revisado por pares]England: Future Medicine LtdTexto completo disponível |
5 |
Material Type: Newsletter Articles
|
![]() |
Genetic Diseases and Conditions - Turner Syndrome; Study Findings from Aarhus University Hospital Provide New Insights into Turner Syndrome (Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome-A comparison with Turner syndrome and 46,XX females)Women's Health Weekly, 2020, p.7171Atlanta: NewsRxTexto completo disponível |
6 |
Material Type: Artigo
|
![]() |
A variant System I for cytochrome c biogenesis in archaea and some bacteria has a novel CcmE and no CcmHAllen, James W.A. ; Harvat, Edgar M. ; Stevens, Julie M. ; Ferguson, Stuart J.FEBS letters, 2006-09, Vol.580 (20), p.4827-4834 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
7 |
Material Type: Artigo
|
![]() |
Tissue-Specific Transcription Footprinting Using RNA PoI DamID (RAPID) in Caenorhabditis elegansGómez-Saldivar, Georgina ; Osuna-Luque, Jaime ; Semple, Jennifer I ; Glauser, Dominique A ; Jarriault, Sophie ; Meister, PeterGenetics (Austin), 2020-12, Vol.216 (4), p.931-945 [Periódico revisado por pares]United States: Oxford University PressTexto completo disponível |
8 |
Material Type: Artigo
|
![]() |
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing PopulationSamango-Sprouse, Carole ; Kırkızlar, Eser ; Hall, Megan P ; Lawson, Patrick ; Demko, Zachary ; Zneimer, Susan M ; Curnow, Kirsten J ; Gross, Susan ; Gropman, Andrea El-Maarri, OsmanPloS one, 2016-08, Vol.11 (8), p.e0161045-e0161045 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
Sex-chromosome dosage effects on gene expression in humansRaznahan, Armin ; Parikshak, Neelroop N. ; Chandran, Vijay ; Blumenthal, Jonathan D. ; Clasen, Liv S. ; Alexander-Bloch, Aaron F. ; Zinn, Andrew R. ; Wangsa, Danny ; Wise, Jasen ; Murphy, Declan G. M. ; Bolton, Patrick F. ; Ried, Thomas ; Ross, Judith ; Giedd, Jay N. ; Geschwind, Daniel H.Proceedings of the National Academy of Sciences - PNAS, 2018-07, Vol.115 (28), p.7398-7403 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
A comprehensive system for consistent numbering of HCV sequences, proteins and epitopesKuiken, C. ; Combet, C. ; Bukh, J. ; Shin-I, T. ; Deleage, G. ; Mizokami, M. ; Richardson, R. ; Sablon, E. ; Yusim, K. ; Pawlotsky, Jm ; Simmonds, P.Hepatology (Baltimore, Md.), 2006-11, Vol.44 (5), p.1355-61 [Periódico revisado por pares]Wiley-BlackwellTexto completo disponível |