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2023
Mark Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, G.F. ; Eklund, E.A. ^LU and Wortmann, S. (2023) In Genetics in Medicine 25(6).
- Contribution to journal › Article
2022
Mark Return of genomic results does not motivate intent to participate in research for all : Perspectives across 22 countries
Milne, Richard ; Morley, Katherine I. ; Almarri, Mohamed A. ; Atutornu, Jerome ; Baranova, Elena E. ; Bevan, Paul ; Cerezo, Maria ; Cong, Yali ; Costa, Alessia and Feijao, Carolina , et al. (2022) In Genetics in Medicine 24(5). p.1120-1129
- Contribution to journal › Article
Mark Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Li, H. ; Borg, Åke ^LU and Goldgar, David E. (2022) In Genetics in Medicine 24(1). p.119-129
- Contribution to journal › Article
2021
Mark De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Klöckner, Chiara ; Lundgren, Johan ^LU and Platzer, Konrad (2021) In Genetics in Medicine 23(4). p.653-660
- Contribution to journal › Article
Mark The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Lakeman, I.M.M. ; Borg, Åke ^LU and Schmidt, Marjanka K. (2021) In Genetics in Medicine 23(9). p.1726-1737
- Contribution to journal › Article
Mark Treatment of ARS deficiencies with specific amino acids
Kok, Gautam ; Tseng, Laura ; Schene, Imre F. ; Dijsselhof, Monique E. ; Salomons, Gajja ; Mendes, Marisa I. ; Smith, Desiree E.C. ; Wiedemann, Arnaud ; Canton, Marie and Feillet, François , et al. (2021) In Genetics in Medicine 23(11). p.2202-2207
- Contribution to journal › Article
2020
Mark Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Barnes, Andrew D. ; Borg, Åke ^LU and Antoniou, A.C. (2020) In Genetics in Medicine 22(10). p.1653-1666
- Contribution to journal › Article
Mark Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
Walsh, Roddy ; Lahrouchi, Najim ; Tadros, Rafik ; Kyndt, Florence ; Glinge, Charlotte ; Postema, Pieter G. ; Amin, Ahmad S. ; Nannenberg, Eline A. ; Ware, James S. and Whiffin, Nicola , et al. (2020) In Genetics in Medicine
- Contribution to journal › Article
2019
Mark Written pretest information and germline BRCA1/2 pathogenic variant testing in unselected breast cancer patients : predictors of testing uptake
Nilsson, Martin P. ^LU ; Nilsson, Erik D. ^LU ; Silfverberg, Barbro ; Borg, Åke ^LU and Loman, Niklas ^LU (2019) In Genetics in Medicine 21(1). p.89-96
- Contribution to journal › Article
Mark Sharing data for future research—engaging participants’ views about data governance beyond the original project : a DIRECT Study
Shah, Nisha ; Coathup, Victoria ; Teare, Harriet ; Forgie, Ian ; Giordano, Giuseppe Nicola ^LU ; Hansen, Tue Haldor ; Groeneveld, Lenka ; Hudson, Michelle ; Pearson, Ewan and Ruetten, Hartmut , et al. (2019) In Genetics in Medicine 21(5). p.1131-1138
- Contribution to journal › Article

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