Issue Date | Title | Author(s) |
2025 | Analysis of the molecular profile of endometrial cancer depending on microsatelite instability | Tripac, Irina; Harasani, Klejda; Čelebić, Aleksandar; Calleja-Agius, Jean; Stratan, Valentina; Tutuianu, Valeriu; Sitnic, Victor |
2006 | Transmission of ring chromosome 21 from a phenotypically normal mother to her trisomic daughter | Cuschieri, Alfred; Said, Edith; Suleiman, S. |
2006 | Griscelli syndrome - the commonest cause of Haemophagocytic Lymphohistiocytosis in Maltese children | Ellul, M.; Calvagna, Victor; Said, Edith; Cuschieri, Alfred |
2006 | Aicardi-Goutières syndrome : a genetic syndrome mimicking congenital infection – a description of two new cases | Soler, Doriette; Said, Edith; Cuschieri, Alfred |
2006 | A profile of genetic diseases in Malta | Cuschieri, Alfred; Said, Edith; Suleiman, S. |
2006 | Juvenile Huntington’s disease in Malta | Cuschieri, Alfred; Galea-Debono, A.; Said, Edith |
2009 | Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion | Denora, Paola S.; Schlesinger, David; Casali, Carlo; Kok, Fernando; Tessa, Alessandra; Boukhris, Amir; Azzedine, Hamid; Dotti, Maria Teresa; Bruno, Claudio; Truchetto, Jeremy; Biancheri, Roberta; Fedirko, Estelle; Di Rocco, Maja; Bueno, Clarissa; Malandrini, Alessandro; Battini, Roberta; Sickl, Elisabeth; Fulvia de Leva, Maria; Boespflug-Tanguy, Odile; Silvestri, Gabriella; Simonati, Alessandro; Said, Edith; Ferbert, Andreas; Criscuolo, Chiara; Heinimann, Karl; Modoni, Anna; Weber, Peter; Palmeri, Silvia; Plasilova, Martina; Pauri, Flavia; Cassandrini, Denise; Battisti, Carla; Pini, Antonella; Tosetti, Michela; Hauser, Erwin; Masciullo, Marcella; Di Fabio, Roberto; Piccolo, Francesca; Denis, Elodie; Cioni, Giovanni; Massa, Roberto; Della Giustina, Elvio; Calabrese, Olga; Melone, Marina A.B.; De Michele, Giuseppe; Federico, Antonio; Bertini, Enrico; Durr, Alexandra; Brockmann, Knut; van der Knaap, Marjo S.; Zatz, Mayana; Filla, Alessandro; Brice, Alexis; Stevanin, Giovanni; Santorelli, Filippo M. |
2009 | Clinical and genetic characteristics of Griscelli syndrome type 2 | Pace, David; Calvagna, Victor; Said, Edith; Parascandolo, R.; de Saint Basile, G. |
2011 | Toriello‐Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH | Said, Edith; Cuschieri, Alfred; Vermeesch, Joris; Fryns, Jean Pierre |
2012 | Vici syndrome — a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy | Said, Edith; Soler, Doriette; Sewry, Caroline |
2012 | Rett syndrome in Malta– clinical and genetic characteristics | Spiteri, A.; Soler, Doriette; Said, Edith |
2013 | Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy | Cullup, Thomas; Kho, Ay Lin; Dionisi-Vici, Carlo; Brandmeier, Birgit; Smith, Frances; Urry, Zoe; Simpson, Michael A.; Yau, Shu; Bertini, Enrico; McClelland, Verity; Al-Owain, Mohammed; Koelker, Stefan; Koerner, Christian; Hoffmann, Georg F.; Wijburg, Frits A.; ten Hoedt, Amber E.; Curtis Rogers, R.; Manchester, David; Miyata, Rie; Hayashi, Masaharu; Said, Edith; Soler, Doriette; Kroisel, Peter M.; Windpassinger, Christian; Filloux, Francis M.; Al-Kaabi, Salwa; Hertecant, Jozef; Del Campo, Miguel; Buk, Stefan; Bodi, Istvan; Goebel, Hans-Hilmar; Sewry, Caroline A.; Abbs, Stephen; Mohammed, Shehla; Josifova, Dragana; Gautel, Mathias; Jungbluth, Heinz |
2015 | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy | Muona, Mikko; Berkovic, Samuel F.; Dibbens, Leanne M.; Oliver, Karen L.; Maljevic, Snezana; Bayly, Marta A.; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E.; Hildebrand, Michael S.; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E.; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D.; Ozkara, Cigdem; Andrade, Danielle M.; Engelsen, Bernt A.; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, João; Privitera, Michael; Espay, Alberto J.; Kauffmann, Birgit; Duchowny, Michael; Møller, Rikke S.; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E.; Daly, Mark J.; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina |
2015 | A case of true hermaphroditism presenting as a testicular tumour | Ceci, Michelle; Calleja, Edward; Said, Edith; Gatt, Noel |
2016 | EPG5-related Vici syndrome : a paradigm of neurodevelopmental disorders with defective autophagy | Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G.W.; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; AlGazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M.; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kolker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F.; Manchester, David; Boyer, Philip J.; Manzur, Adnan Y.; Marques Lourenco, Charles; Pilz, Daniela T.; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K.; Curtis Rogers, R.; Ryan, Monique M.; Brown, Natasha J.; McLean, Catriona A.; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A.; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz |
2017 | Diagnosis and management of Silver–Russell syndrome : first international consensus statement | Wakeling, Emma L.; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi; O’Connell, Susan M.; Salem, Jennifer; Bliek, Jet; Canton, Ana P.M.; Chrzanowska, Krystyna H.; Davies, Justin H.; Dias, Renuka P.; Dubern, Béatrice; Elbracht, Miriam; Giabicani, Eloise; Grimberg, Adda; Grønskov, Karen; Hokken-Koelega, Anita C.S.; Jorge, Alexander A.; Kagami, Masayo; Linglart, Agnes; Maghnie, Mohamad; Mohnike, Klaus; Monk, David; Moore, Gudrun E.; Murray, Philip G.; Ogata, Tsutomu; Petit, Isabelle Oliver; Russo, Silvia; Said, Edith; Toumba, Meropi; Tümer, Zeynep; Binder, Gerhard; Eggermann, Thomas; Harbison, Madeleine D.; Karen Temple, I.; Mackay, Deborah J.G.; Netchine, Irène |
2022 | Dietary control and weight management for diabetes prevention and intervention | Caruana Grech Perry, Mario; Copperstone, Claire |
2017 | Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1 | Said, Edith; Chong, Jessica X.; Hempel, Maja; Denecke, Jonas; Soler, Paul; Strom, Tim; Nickerson, Deborah A.; Kubisch, Christian; Bamshad, Michael J.; Lessel, Davor; University of Washington Center for Mendelian Genomics |
2025 | Advancements in uterine sarcoma management : a review | Lebar, Vojka; Celebic, Aleksandar; Calleja-Agius, Jean; Jakimovska, Marina; Drusany Staric, Kristina |
2018 | Characteristics of sporadic Creutzfeldt-Jakob disease cases in Malta | Melillo, Tanya; Borg, K.; Said, Edith; Borg, M.L.; Gauci, Charmaine |