Publications | Lund University Publications

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2025
Mark Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia
AlEissa, Mariam M. ; Alhawsawi, Abrar A. ; Milibari, Doaa ; Schatz, Patrik ^LU ; AlBalawi, Hani B. ; Alali, Naif M. ; Abu-Amero, Khaled K. ; Hameed, Syed and Magliyah, Moustafa S. (2025) In Genes 16(7).
- Contribution to journal › Scientific review
Mark The impact of common and rare genetic variants on bradyarrhythmia development
Weng, L.-C. ; van der Pals, J. ^LU ; Smith, J.G. ^LU and Lubitz, S.A. (2025) In Nature Genetics 57. p.53-64
- Contribution to journal › Article
Mark Deficiency of Peptidylglycine-alpha-amidating Monooxygenase, a Cause of Sarcopenic Diabetes Mellitus
Giontella, Alice ^LU ; Åkerlund, Mikael ^LU ; Bronton, Kevin ^LU ; Fava, Cristiano ^LU ; Lotta, Luca A. ; Baras, Aris ; Overton, John D. ; Jones, Marcus ; Bergmann, Andreas and Kaufmann, Paul , et al. (2025) In Journal of Clinical Endocrinology and Metabolism 110(3). p.820-829
- Contribution to journal › Article
Mark PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson's disease female patient
Pavan, Chiara ^LU ; Jin, Jennifer ; Jong, Sharon ; Qian, Gordon ; Strbenac, Dario ; Davis, Ryan L. ; Halliday, Glenda M. ; Kirik, Deniz ^LU ; Parish, Clare L. and Thompson, Lachlan H. ^LU , et al. (2025) In Stem Cell Research 87.
- Contribution to journal › Article
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 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 The fifth international hackathon for developing computational cloud-based tools and resources for pan-structural variation and genomics
Deb, Sontosh K ; Kalra, Divya ; Kubica, Jędrzej ; Stricker, Erik ; Truong, Van Q ; Zeng, Qiandong ; Fiscus, Christopher J ; Agustinho, Daniel Paiva ; Alexander, Adam and Arciniega-Sanchez, Marlon , et al. (2024) In F1000Research 13. p.1-33
- Contribution to journal › Article
Mark Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
Keaton, J.M. ; Melander, O. ^LU and Warren, H.R. (2024) In Nature Genetics 56(5). p.778-791
- Contribution to journal › Article
Mark Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions
Dareng, E.O. ; Olsson, H. ^LU and Gayther, S.A. (2024) In American Journal of Human Genetics 111(6). p.1061-1083
- Contribution to journal › Article
Mark Variability of polygenic prediction for body mass index in Africa
Chikowore, Tinashe ; Läll, Kristi ; Micklesfield, Lisa K. ; Lombard, Zane ; Goedecke, Julia H. ; Fatumo, Segun ; Norris, Shane A. ; Magi, Reedik ; Ramsay, Michele and Franks, Paul W. ^LU , et al. (2024) In Genome Medicine 16(1).
- Contribution to journal › Article

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