Browsing by Subject Exomes
Showing results 1 to 5 of 5
| Issue Date | Title | Author(s) |
| 2019 | Exome sequencing with functional follow-up identifies KIF26B as a novel genetic determinant of familial osteoporosis | Formosa, Melissa Marie; Formosa, Robert; Linde, Herma C. Van Der; Metz, Juriaan R.; Flik, Gert; Khajuria, Deepak Kumar; Karasik, David; Carola Zillikens, M.; Willemsen, Rob; Uitterlinden, André G.; Ham, Tjakko J. van; Rivadeneira, Fernando; Verkerk, Annemieke J. M. H.; Xuereb-Anastasi, Angela |
| 2023 | Genetics of ADPKD : using long-range PCR to complement whole exome sequencing data | Micallef, Edwina Maria (2023) |
| 2016 | Krüppeling erythropoiesis : an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants | Perkins, Andrew; Xu, Xiangmin; Higgs, Douglas R.; Patrinos, George P.; Arnaud, Lionel; Bieker, James J.; Philipsen, Sjaak; Borg, Joseph J.; Klf1 Consensus and Workgroup |
| 2021-01 | Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries | Vaxillaire, Martine; Bonnefond, Amélie; Liatis, Stavros; Hachmi, Leila Ben Salem; Jotic, Aleksandra; Boissel, Mathilde; Gaget, Stefan; Durand, Emmanuelle; Vaillant, Emmanuel; Derhourhi, Mehdi; Canouil, Mickaël; Larcher, Nicolas; Allegaert, Frédéric; Medlej, Rita; Chadli, Asma; Belhadj, Azzedine; Chaieb, Molka; Raposo, Joao-Felipe; Ilkova, Hasan; Loizou, Doros; Lalic, Nebojsa; Vassallo, Josanne; Marre, Michel; Froguel, Philippe; MODY-MGSD Study Group |
| 2021-07 | Screening for monogenic subtypes of gestational diabetes in a high prevalence island population : a whole exome sequencing study | Pace, Nikolai Paul; Vella, Barbara; Craus, Johann; Caruana, Ruth; Savona-Ventura, Charles; Vassallo, Josanne |
