Browsing by Author Borg, Isabella

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Issue DateTitleAuthor(s)
2018BBMRI.mt participates in collaborative BBMRI-LPC project on Mitochondrial DisordersVella, Joanna; Borg, Joseph J.; Soler, Doriette; Vella, Norbert; Aquilina, Josanne; Said, Edith; Borg, Isabella; Felice, Alex
2015The clinical bank of BBMRI.mtVella, 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
2015The clinical bank of BBMRI.mtVella, 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.
2021The clinical relevance of the microbiome in hidradenitis suppurativa : a systematic reviewMintoff, Dillon; Borg, Isabella; Pace, Nikolai Paul
2022Co‐morbid palmoplantar keratoderma type 1A and Loeys‐Dietz Syndrome type 3 in a patient with a chromosome 15 microdeletionMintoff, Dillon; Pace, Nikolai Paul; Al-Kawlani, Boodor; Bauer, Peter; Borg, Isabella
2018Diagnosis of mitochondrial disorders by whole exome sequencingVella, Joanna; Laurie, S.; Borg, Joseph J.; Soler, Doriette; Vella, Norbert; Aquilina, Josanne; Said, Edith; Borg, Isabella; Felice, Alex E.
2021Genetics and gynaecological diseaseBorg, Isabella; Pace, Nikolai Paul
2022The genomic architecture of hidradenitis suppurativa - a systematic reviewPace, Nikolai Paul; Mintoff, Dillon; Borg, Isabella
1997HB Setif [A94(Gi)Asp+Tyr] in MaltaBorg, Isabella; Valentino, Mario; Fiorini, A.; Felice, Alex
2022Hypermobile Ehlers–Danlos syndrome : a review and a critical appraisal of published genetic research to dateScicluna, Kirsty; Formosa, Melissa Marie; Farrugia, Rosienne; Borg, Isabella
2022Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa : an in-silico studyMintoff, Dillon; Pace, Nikolai Paul; Borg, Isabella
2018Malta BioBank (BBMRI.mt) in RD-ConnectVella, 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.
2018The Malta BioBank investigates mitochondrial disorders through a collaborative BBMRI-LPC projectVella, J.; Laurie, S.; Matalonga, L.; Borg, Joseph J.; Soler, D.; Vella, N.; Aquilina, Josanne; Dalli, J.; Said, E.; Borg, Isabella; Felice, Alex E.
2022Management of Hidradenitis suppurativa patients having underlying genetic variation - a systematic review and a call for precision medicineMintoff, Dillon; Pace, Nikolai Paul; Borg, Isabella
2017-03-23Molecular 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 chromosomePace, Nikolai Paul; Frideriki, Maggouta; Twigden, Melissa; Borg, Isabella
2021A novel c. 671_682del NCSTN variant in a family with Hidradenitis Suppurativa : a pilot studyMintoff, Dillon; Pace, Nikolai Paul; Bauer, Peter; Borg, Isabella
2020A novel c. 916C> A EDA gene pathogenic variant in a boy with X-Linked Hypohidrotic Ectodermal DysplasiaMintoff, Dillon; Pace, Nikolai Paul; Mercieca, V.; Bauer, Peter; Borg, Isabella
2021A novel SPINK5 donor splice site variant in a child with Netherton syndromeMintoff, Dillon; Borg, Isabella; Vornweg, Julia; Mercieca, Liam; Merdzanic, Rijad; Numrich, Johannes; Aquilina, Susan; Pace, Nikolai Paul; Fischer, Judith
2015-03Rare disease research and the Malta biobankVella, 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
2020A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutationPace, Nikolai Paul; Pace Bardon, Michael; Borg, Isabella