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Browsing by Author Borg, Isabella
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Showing results 7 to 24 of 24
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Issue Date
Title
Author(s)
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
;
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, E.
;
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
;
Camilleri-Podesta, Marie Therese
;
Ellul, Bridget
;
Abela, Mark
;
Grima, David
;
Zammit, Esther
;
Pace, Nikolai Paul
;
Felice, Alex
;
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
2016
Satisfaction in the primary classroom : the effects of classroom management
Borg, Isabella
2022
Serum immunoglobulin G is a marker of Hidradenitis suppurativa disease severity
Mintoff, Dillon
;
Borg, Isabella
;
Pace, Nikolai Paul
2019
Two novel GJA1 variants in oculodentodigital dysplasia
Pace, Nikolai Paul
;
Benoit, Valerie
;
Agius, David
;
Grima, Maria Angela
;
Parascandalo, Raymond
;
Hilbert, Pascale
;
Borg, Isabella
2013
Webcast courses in Medical Genetics and next generation sequencing
Borg, Isabella