Issue Date | Title | Author(s) |
2018 | BBMRI.mt participates in collaborative BBMRI-LPC project on Mitochondrial Disorders | Vella, Joanna; Borg, Joseph J.; Soler, Doriette; Vella, Norbert; Aquilina, Josanne; Said, Edith; Borg, Isabella; Felice, Alex |
2015 | The clinical bank of BBMRI.mt | Vella, Joanna; Grech, Laura; Scerri, Jeanesse; Scerri, Christian A.; Bezzina Wettinger, Stephanie; Camilleri, Graziella; Zammit, Esther; Grech, Godfrey; Soler, Doriette; Borg, Isabella; Camilleri-Podesta, Marie Therese; Abela, Mark; Ebejer, Jean Paul; Borg, Joseph N.; Galdies, Ruth; Cassar, Wilhelmina; Camilleri, Alexander; Farrugia, Rosienne; Pace, Nikolai Paul; Said Conti, Valerie; Vella, Norbert; Saliba, Christian; Said, Edith; Ellul, Bridget; Grima, David; Felice, Alex |
2015 | The clinical bank of BBMRI.mt | Vella, Joanna; Borg, Joseph J.; Grech, Laura; Galdies, Ruth; Scerri, Jeanesse; Cassar, Wilhelmina; Scerri, Christian A.; Camilleri, Alexander; Bezzina Wettinger, Stephanie; Farrugia, Rosienne; Camilleri, G.; Pace, N.P.; Zammit, E.; Said Conti, V.; Grech, Godfrey; Saliba, Christian; Soler, Doriette; Vella, Norbert R.; Borg, Isabella; Said, Edith; Camilleri Podesta, Marie Therese; Ellul, Bridget; Felice, T.; Grima, David; Ebejer, Jean Paul; Felice, Alex E. |
2015 | Cytogenetics of chronic lymphocytic leukaemia in Malta | Ciantar, Rachelle; Muscat, Karen; Bugeja, Marisa; Baldacchino, Shawn; Said, Edith |
2004 | Defect in dorso-ventral patterning, asplenia, and conotruncus in a spontaneously aborted fetus | Cuschieri, Alfred; Said, Edith; Calleja-Agius, Jean |
2018 | Diagnosis of mitochondrial disorders by whole exome sequencing | Vella, Joanna; Laurie, S.; Borg, Joseph J.; Soler, Doriette; Vella, Norbert; Aquilina, Josanne; Said, Edith; Borg, Isabella; Felice, Alex E. |
2017 | DiGeorge phenotype in the absence of 22q11 deletion : a case report | Taliana, Nikita; Said, Edith; Grech, Victor E. |
2020 | DPH1 syndrome : two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients | Urreizti, Roser; Mayer, Klaus; Evrony, Gilad D.; Said, Edith; Castilla-Vallmanya, Laura; Cody, Neal A.L.; Plasencia, Guillem; Gelb, Bruce D.; Grinberg, Daniel; Brinkmann, Ulrich; Webb, Bryn D.; Balcells, Susanna |
2024 | Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta | Ciantar, Natalie; Zahra, Graziella; Delicata, Julian; Sammut, Fiona; Calleja-Agius, Jean; Farrugia, Emanuel; Said, Edith |
2018 | Malta BioBank (BBMRI.mt) in RD-Connect | Vella, Joanna; Soler, Doriette; Scerri, Christian A.; Vella, Norbert; Aquilina, Josanne; Borg, Isabella; Said, Edith; Spiteri, A.; Dalli, J.; Ryabova, L.; Pace, Malcolm; Borg, Joseph J.; Grech, Laura; Camilleri, Alexander; Zammit, E.; Said-Conti, V.; Pace, N.; Vassallo, Josanne; Felice, Alex E. |
2018 | The Malta BioBank investigates mitochondrial disorders through a collaborative BBMRI-LPC project | Vella, J.; Laurie, S.; Matalonga, L.; Borg, Joseph J.; Soler, D.; Vella, N.; Aquilina, Josanne; Dalli, J.; Said, Edith; Borg, Isabella; Felice, Alex E. |
2009 | Molecular cytogenetics in the diagnosis of mental retardation in Malta | Said, Edith |
2020 | Neuropsychosocial outcomes of patients with untreated craniosynostosis | Attard Mallia, Tamara; Said, Edith |
2000 | A population study of FMR1 mutations in Malta | Said, Edith |
2015-03 | Rare disease research and the Malta biobank | Vella, Joanna; Borg, Joseph J.; Grech, Laura; Galdies, Ruth; Scerri, Jeanesse; Cassar, Wilhelmina; Scerri, Christian A.; Grech, Godfrey; Soler, Doriette; Said, Edith; Borg, Isabella; Vella, Norbert; Camilleri-Podesta, Marie Therese; Ellul, Bridget; Abela, Mark; Grima, David; Zammit, Esther; Pace, Nikolai Paul; Felice, Alex; Said Conti, Valerie |
2015 | Serum cytokines in Maltese women with miscarriage | Xerri, Christina; Said, Edith; Calleja-Agius, Jean |
2024 | Trophoblastic disease and choriocarcinoma | Camilleri, Graziella; Calleja-Agius, Jean; Said, Edith |
2015 | X-linked Charcot Marie-tooth due to a c.475G> A mutation in the GJB1 gene in the Maltese population | Grech, Jamie Alexander; Borg, Daniel; Zammit, Louise; Vella, Malcolm; Borg, Joseph; Said, Edith |
2016 | Y chromosome in turner syndrome : a case report | Taliana, Nikita; Grech, Victor E.; DeGiovanni, Joseph V.; Said, Edith |