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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 R.; Aquilina, Josanne; Said, Edith; Borg, Isabella; Felice, Alex E. |
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, Nikolai Paul; Zammit, E.; Said Conti, Valerie; 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 | 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 R.; Saliba, Christian; Said, Edith; Ellul, Bridget; Grima, David; Felice, Alex E. |
2021 | The clinical relevance of the microbiome in hidradenitis suppurativa : a systematic review | Mintoff, Dillon; Borg, Isabella; Pace, Nikolai Paul |
2022 | Co‐morbid palmoplantar keratoderma type 1A and Loeys‐Dietz Syndrome type 3 in a patient with a chromosome 15 microdeletion | Mintoff, Dillon; Pace, Nikolai Paul; Al-Kawlani, Boodor; Bauer, Peter; Borg, Isabella |
2018 | Diagnosis of mitochondrial disorders by whole exome sequencing | Vella, Joanna; Laurie, S.; Borg, Joseph J.; Soler, Doriette; Vella, Norbert R.; Aquilina, Josanne; Said, Edith; Borg, Isabella; Felice, Alex E. |
2021 | Genetics and gynaecological disease | Borg, Isabella; Pace, Nikolai Paul |
2022 | The genomic architecture of hidradenitis suppurativa - a systematic review | Pace, Nikolai Paul; Mintoff, Dillon; Borg, Isabella |
1997 | HB Setif [A94(Gi)Asp+Tyr] in Malta | Borg, Isabella; Valentino, Mario; Fiorini, A.; Felice, Alex |
2022 | Hypermobile Ehlers–Danlos syndrome : a review and a critical appraisal of published genetic research to date | Scicluna, Kirsty; Formosa, Melissa Marie; Farrugia, Rosienne; Borg, Isabella |
2022 | Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa : an in-silico study | Mintoff, Dillon; Pace, Nikolai Paul; Borg, Isabella |
2018 | Malta BioBank (BBMRI.mt) in RD-Connect | Vella, Joanna; Soler, Doriette; Scerri, Christian A.; Vella, Norbert R.; 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, Valerie; Pace, Nikolai Paul; 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, Doriette; Vella, Norbert R.; Aquilina, Josanne; Dalli, J.; Said, Edith; Borg, Isabella; Felice, Alex E. |
2022 | Management of Hidradenitis suppurativa patients having underlying genetic variation - a systematic review and a call for precision medicine | Mintoff, Dillon; Pace, Nikolai Paul; Borg, Isabella |
2017-03-23 | Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome | Pace, Nikolai Paul; Frideriki, Maggouta; Twigden, Melissa; Borg, Isabella |
2021 | A novel c. 671_682del NCSTN variant in a family with Hidradenitis Suppurativa : a pilot study | Mintoff, Dillon; Pace, Nikolai Paul; Bauer, Peter; Borg, Isabella |
2020 | A novel c. 916C> A EDA gene pathogenic variant in a boy with X-Linked Hypohidrotic Ectodermal Dysplasia | Mintoff, Dillon; Pace, Nikolai Paul; Mercieca, V.; Bauer, Peter; Borg, Isabella |
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 |
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 R.; Camilleri-Podesta, Marie Therese; Ellul, Bridget; Abela, Mark; Grima, David; Zammit, Esther; Pace, Nikolai Paul; Felice, Alex E.; Said Conti, Valerie |
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 |