Publications | Lund University Publications

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2024
Mark Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Johansson, Josefin ; Lidéus, Sarah ; Frykholm, Carina ; Gunnarsson, Cecilia ; Mihalic, Filip ; Gudmundsson, Sanna ; Ekvall, Sara ; Molin, Anna Maja ; Pham, Mai and Vihinen, Mauno ^LU , et al. (2024) In European Journal of Human Genetics 32(3). p.333-341
- Contribution to journal › Article
Mark Weaponized genomics : potential threats to international and human security
Chattopadhyay, Subhayan ^LU ; Ingesson, Tony ^LU ; Rinaldi, Alberto ^LU ; Larsson, Oscar ; Widen, J J ; Almqvist, Jessica ^LU and Gisselsson, David ^LU (2024) In Nature Reviews. Genetics 25(1). p.1-2
- Contribution to journal › Letter
Mark Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
Wallenius, Joel ^LU ; Kafantari, Efthymia ^LU ; Jhaveri, Emma ; Gorcenco, Sorina ^LU ; Ameur, Adam ; Karremo, Christin ^LU ; Dobloug, Sigurd ^LU ; Karrman, Kristina ^LU ; de Koning, Tom ^LU and Ilinca, Andreea ^LU , et al. (2024) In American Journal of Human Genetics 111(1). p.82-95
- Contribution to journal › Article
Mark Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations
Raidt, J. ; Hansen, C.R. ^LU and Omran, H. (2024) In European Respiratory Journal 64(2).
- Contribution to journal › Article
Mark Inferring compound heterozygosity from large-scale exome sequencing data
Guo, M.H. ; Groop, L. ^LU ; Haiman, C. ; Melander, O. ^LU ; Nilsson, P.M. ^LU ; Smith, J.G. ^LU and Samocha, K.E. (2024) In Nature Genetics 56(1). p.152-161
- Contribution to journal › Article
Mark Human monocyte subtype expression of neuroinflammation- and regeneration-related genes is linked to age and sex
Tampé, Juliane F. ^LU ; Monni, Emanuela ^LU ; Palma-Tortosa, Sara ^LU ; Brogårdh, Emil ; Böiers, Charlotta ^LU ; Lindgren, Arne G. ^LU and Kokaia, Zaal ^LU (2024) In PLoS ONE 19(10 October).
- Contribution to journal › Article
Mark A genome-wide association analysis reveals new pathogenic pathways in gout*
Major, T.J. ; Kapetanovic, M.C. ^LU ; Melander, O. ^LU and Merriman, T.R. (2024) In Nature Genetics 56(11).
- Contribution to journal › Article
Mark Nigral transcriptomic profiles in Engrailed-1 hemizygous mouse models of Parkinson's disease reveal upregulation of oxidative phosphorylation-related genes associated with delayed dopaminergic neurodegeneration
Belfiori, Lautaro Francisco ^LU ; Dueñas Rey, Alfredo ^LU ; Ralbovszki, Dorottya Mária ; Jimenez-Ferrer, Itzia ; Fredlund, Filip ^LU ; Balikai, Sagar Shivayogi ; Ahrén, Dag ^LU ; Brolin, Kajsa Atterling ^LU and Swanberg, Maria ^LU (2024) In Frontiers in Aging Neuroscience 16.
- Contribution to journal › Article
Mark Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Kentistou, K.A. ; Jernström, H. ^LU and Ong, Ken K. (2024) In Nature Genetics 56(7). p.1397-1411
- Contribution to journal › Article
Mark Human Leukocyte Antigen Signatures as Pathophysiological Discriminants of Microscopic Colitis Subtypes
Zheng, Tenghao ; Roda, Giulia ; Zabana, Yamile ; Escudero-Hernández, Celia ; Liu, Xingrong ; Chen, Ye ; Tavares, Leticia Camargo ; Bonfiglio, Ferdinando ; Mellander, Marie Rose and Janczewska, Izabella , et al. (2024) In Journal of Crohn's and Colitis 18(3). p.349-359
- Contribution to journal › Article

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