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Browsing by Author Borg, Isabella

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Issue Date	Title	Author(s)
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

Showing results 9 to 24 of 24 < previous