Browsing by Author Pace, Nikolai Paul

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Issue DateTitleAuthor(s)
2019Identification of an HNF1A p.Gly292fs frameshift mutation presenting as diabetes during pregnancy in a Maltese familyPace, Nikolai Paul; Rizzo, Christopher; Abela, Alexia; Gruppetta, Mark; Fava, Stephen; Felice, Alex; Vassallo, Josanne
2018-05-15Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathyPace, Nikolai Paul; Craus, Johann; Felice, Alex; Vassallo, Josanne
2014Inflammation and insulin resistance : evolution, pathology and therapyPace, Nikolai Paul
2020Insights from whole exome sequencing in a Maltese cohort with gestational diabetesPace, Nikolai Paul; Vella, Barbara; Craus, Johann; Abou-Hussein, Samir; Caruana, Ruth; Felice, Alex; Savona-Ventura, Charles; Vassallo, Josanne
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
2023Investigating adiposity-related metabolic health phenotypes in patients with hidradenitis suppurativa : a cross-sectional studyMintoff, Dillon; Agius, Rachel; Fava, Stephen; Pace, Nikolai Paul
2014Is there a role for genetic risk prediction studies in type 2 diabetes?Pace, Nikolai Paul
2020Learning the biomedical sciences-motivational determinants and differences in first and second year medical studentsPace, Nikolai Paul; Calleja-Agius, Jean
2019Low-prevalence of NOD2 polymorphisms in a Maltese IBD cohortSchembri, J.; Pace, Nikolai Paul; Degenhardt, F.; Franke, A.; Ellul, P.
2022Management of Hidradenitis suppurativa patients having underlying genetic variation - a systematic review and a call for precision medicineMintoff, Dillon; Pace, Nikolai Paul; Borg, Isabella
2021Metabolic syndrome and hidradenitis suppurativa: Epidemiological, molecular, and therapeutic aspectsMintoff, Dillon; Benhadou, Farida; Pace, Nikolai Paul; Frew, John W.
2019Metformin as an adjuvant in breast cancer treatmentRoshan, Mohsin H.K.; Shing, Yan K.; Pace, Nikolai Paul
2016-10The microbial hypothesis : contributions of adenovirus infection and metabolic endotoxaemia to the pathogenesis of obesityTambo, Amos; Roshan, Mohsin H.K.; Pace, Nikolai Paul
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
2015-12Molecular screening of the human melanocortin 4 receptor gene in obese Maltese type 2 diabetic patientsEljali, Seham; Pace, Nikolai Paul; Vassallo, Josanne; Felice, Alex
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
2022A novel population of activated cytotoxic T cells infiltrate pituitary neuroendocrine tumour subytpesMazzitelli, Oriana; Ebejer, Jean Paul; Pace, Nikolai Paul; Gruppetta, Mark; Vassallo, Josanne; Saliba, David
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
2019Phenotypic and genetic markers of disease severity in a Maltese IBD cohortSchembri, J.; Pace, Nikolai Paul; Piscopo, N.; Degenhardt, F.; Franke, A.; Ellul, P.