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Results 1-10 of 39 (Search time: 0.019 seconds).
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Issue DateTitleAuthor(s)
2017DiGeorge phenotype in the absence of 22q11 deletion : a case reportTaliana, Nikita; Said, Edith; Grech, Victor E.
2004Defect in dorso-ventral patterning, asplenia, and conotruncus in a spontaneously aborted fetusCuschieri, Alfred; Said, Edith; Calleja-Agius, Jean
2024Genotype-phenotype of autosomal dominant polycystic kidney disease in MaltaCiantar, Natalie; Zahra, Graziella; Delicata, Julian; Sammut, Fiona; Calleja-Agius, Jean; Farrugia, Emanuel; Said, Edith
2015X-linked Charcot Marie-tooth due to a c.475G> A mutation in the GJB1 gene in the Maltese populationGrech, Jamie Alexander; Borg, Daniel; Zammit, Louise; Vella, Malcolm; Borg, Joseph; Said, Edith
2015Serum cytokines in Maltese women with miscarriageXerri, Christina; Said, Edith; Calleja-Agius, Jean
2015Cytogenetics of chronic lymphocytic leukaemia in MaltaCiantar, Rachelle; Muscat, Karen; Bugeja, Marisa; Baldacchino, Shawn; Said, Edith
2024Trophoblastic disease and choriocarcinomaCamilleri, Graziella; Calleja-Agius, Jean; Said, Edith
2020DPH1 syndrome : two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsUrreizti, 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
2015Diagnosis of aneupoloidy using quantitative real-time PCRMercieca, Ann Marie; Bugeja, Marisa; Zahra, Graziella; Farrugia, John-Mary; Said, Edith
2018Coarctation of the aorta - an epidemiological review of the Maltese IslandsSaid, Edith; Borg, L. W.; Vassallo, Lucienne