Samuel Gebre-Medhin

Division of Clinical Genetics

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2024
Mark Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome
Dalene Skarping, Karin ^LU ; Arning, Larissa ; Petersén, Åsa ^LU ; Nguyen, Huu Phuc and Gebre-Medhin, Samuel ^LU (2024) In Scientific Reports 14(1).
- Contribution to journal › Article
2022
Mark Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield : Results from a nationwide prospective cohort
Svensson, Sara ^LU ; Zagoras, Theofanis ; Aravidis, Christos ; Askmalm, Marie Stenmark ^LU ; Björck, Erik ; Borg, Åke ^LU ; Kuchinskaya, Ekaterina ; Nilbert, Mef ^LU ; Nordling, Margareta and Rohlin, Anna , et al. (2022) In Genes Chromosomes and Cancer 61(10). p.585-591
- Contribution to journal › Article
2019
Mark Hereditary colorectal cancer diagnostics in southern Sweden : retrospective evaluation and future considerations with emphasis on Lynch syndrome
Henriksson, Isabelle ; Henriksson, Karin ^LU ; Ehrencrona, Hans ^LU and Gebre-Medhin, Samuel ^LU (2019) In Journal of Community Genetics 10(2). p.259-266
- Contribution to journal › Article
Mark Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
Olkinuora, Alisa ; Nieminen, Taina T. ; Mårtensson, Emma ^LU ; Rohlin, Anna ^LU ; Ristimäki, Ari ; Koskenvuo, Laura ; Lepistö, Anna ; Gebre-Medhin, Samuel ^LU ; Nordling, Margareta and Peltomäki, Päivi (2019) In Genetics in Medicine 21(8). p.1868-1873
- Contribution to journal › Article
2018
Mark A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis 11 Medical and Health Sciences 1117 Public Health and Health Services
Karimi, Masoud ; Von Salomé, Jenny ; Aravidis, Christos ; Silander, Gustav ; Askmalm, Marie Stenmark ^LU ; Henriksson, Isabelle ; Gebre-Medhin, Samuel ^LU ; Frödin, Jan Erik ; Björck, Erik and Lagerstedt-Robinson, Kristina , et al. (2018) In Hereditary Cancer in Clinical Practice 16(1).
- Contribution to journal › Article
2017
Mark Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
Rohlin, Anna ^LU ; Rambech, Eva ^LU ; Kvist, Anders ^LU ; Törngren, Therese ^LU ; Eiengård, Frida ; Lundstam, Ulf ; Zagoras, Theofanis ; Gebre-Medhin, Samuel ^LU ; Borg, Åke ^LU and Björk, Jan , et al. (2017) In Familial Cancer 16(2). p.195-203
- Contribution to journal › Article
Mark Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort
Bengtsson, Daniel ^LU ; Joost, Patrick ^LU ; Aravidis, Christos ; Askmalm Stenmark, Marie ^LU ; Backman, Ann Sofie ; Melin, Beatrice ; von Salomé, Jenny ; Zagoras, Theofanis ; Gebre-Medhin, Samuel ^LU and Burman, Pia ^LU (2017) In The Journal of clinical endocrinology and metabolism 102(11). p.3928-3932
- Contribution to journal › Article
Mark Genetic anticipation in Swedish Lynch syndrome families
von Salomé, Jenny ; Boonstra, Philip S. ; Karimi, Masoud ; Silander, Gustav ; Stenmark-Askmalm, Marie ^LU ; Gebre-Medhin, Samuel ^LU ; Aravidis, Christos ; Nilbert, Mef ^LU ; Lindblom, Annika and Lagerstedt-Robinson, Kristina (2017) In PLoS Genetics 13(10).
- Contribution to journal › Article
2016
Mark Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
Fergelot, Patricia ; Van Belzen, Martine ; Van Gils, Julien ; Afenjar, Alexandra ; Armour, Christine M. ; Arveiler, Benoit ; Beets, Lex ; Burglen, Lydie ; Busa, Tiffany and Collet, Marie , et al. (2016) In American Journal of Medical Genetics. Part A 170(12). p.3069-3082
- Contribution to journal › Article
Mark L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
Christaller, Wilhelm A A ; Vos, Yvonne ; Gebre-Medhin, Samuel ^LU ; Hofstra, Robert M W and Schäfer, Michael K E (2016) In Clinical Genetics
- Contribution to journal › Article

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