Browsing by Subject Molecular genetics
Showing results 1 to 12 of 12
| Issue Date | Title | Author(s) |
| 1992 | The development of a comprehensive genetics programme for the early identification of disabled children with hereditary disease | Felice, Alex |
| 2012 | The effect of modifier genes on foetal haemoglobin in the Maltese population. | Scerri, Gary |
| 2012 | Investigating the frequency of the G23D mutation causing DHPR deficiency in the Maltese population. | Tabone, Christine |
| 2014 | Key challenges for next‐generation pharmacogenomics | Kampourakis, Kostas; Vayena, Effy; Mitropoulou, Christina; Schaik, Ron H.; Cooper, David N.; Borg, Joseph J.; Patrinos, George P. |
| 2013 | Metal ion sensing for biomedical uses | Magri, David C.; Mallia, Carl J. |
| 2014 | METTL23, a transcriptional partner of GABPA, is essential for human cognition | Reiff, Rachel E.; Ali, Bassam R.; Baron, Byron; W. Yu, Timothy; Ben-Salem, Salma; E. Coulter, Michael; Schubert, Christian R.; Hill, R. Sean; Akawi, Nadia A.; Al-Younes, Banan; Kaya, Namik; Evrony, Gilad D.; Al-Saffar, Muna; Felie, Jillian M.; Partlow, Jennifer N.; Sunu, Christine M.; Schembri-Wismayer, Pierre; Alkuraya, Fowzan S.; Meyer, Brian F.; Walsh, Christopher A.; Al-Gazali, Lihadh; Mochida, Ganeshwaran H. |
| 2015-12 | Molecular screening of the human melanocortin 4 receptor gene in obese Maltese type 2 diabetic patients | Eljali, Seham; Pace, Nikolai Paul; Vassallo, Josanne; Felice, Alex |
| 2015 | A naphthalimide-based ‘Pourbaix sensor’ : a redox and pH driven AND logic gate with photoinduced electron transfer and internal charge transfer mechanisms | Spiteri, Jake C.; Schembri, Jonathan S.; Magri, David C. |
| 2021 | A novel SPINK5 donor splice site variant in a child with Netherton syndrome | Mintoff, Dillon; Borg, Isabella; Vornweg, Julia; Mercieca, Liam; Merdzanic, Rijad; Numrich, Johannes; Aquilina, Susan; Pace, Nikolai Paul; Fischer, Judith |
| 2020 | A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation | Pace, Nikolai Paul; Pace Bardon, Michael; Borg, Isabella |
| 2018 | Shifting power dynamics in genomic research | Martin, Gillian M. |
| 2019 | Splicing defects of the profilin gene alter actin dynamics in an S. pombe SMN mutant | Antoine, Marie; Patrick, Kristin L.; Soret, Johann; Duc, Pauline; Rage, Florence; Cacciottolo, Rebecca; Nissen, Kelly E.; Cauchi, Ruben J.; Krogan, Nevan J.; Guthrie, Christine; Gachet, Yannick; Bordonné, Rémy |
