Browsing by Author Pace, Nikolai Paul

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Issue DateTitleAuthor(s)
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.
2016-07-26Potential role of caffeine in the treatment of Parkinson’s diseaseRoshan, Mohsin H.K.; Tambo, Amos; Pace, Nikolai Paul
2016Prevalence of obesity in MaltaCuschieri, Sarah; Vassallo, Josanne; Calleja, Neville; Camilleri, Ryan; Ayrton Borg, Axisa; Bonnici, Gary; Zhang, Yimeng; Pace, Nikolai Paul; Mamo, Julian
2022Prevalence rates of metabolic health and body size phenotypes by different criteria and association with insulin resistance in a Maltese Caucasian populationAgius, Rachel; Fava, Marie Claire; Pace, Nikolai Paul; Fava, Stephen
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
2022Reduced leukocyte mitochondrial copy number in metabolic syndrome and metabolically healthy obesityAgius, Rachel; Pace, Nikolai Paul; Fava, Stephen
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
2022RNA profiling of human growth hormone-secreting and non-functioning pituitary adenomas reveals novel and differentially expressed immune related genesSpiteri, Emma Jayne; Formosa, Robert; Ebejer, Jean Paul; Pace, Nikolai Paul; Gruppetta, Mark; Saliba, David; Vassallo, Josanne
2022The role of risk factors and biochemical markers in the susceptibility of hormone dependent malignanciesMicallef Fava, A.; Pace, Nikolai Paul; Savona-Ventura, Charles
2016-11-10The role of testosterone in colorectal carcinoma : pathomechanisms and open questionsRoshan, Mohsin H.K.; Tambo, Amos; Pace, Nikolai Paul
2016-09The role of TLR2, TLR4, and TLR9 in the pathogenesis of atherosclerosisRoshan, Mohsin H.K.; Tambo, Amos; Pace, Nikolai Paul
2020-02Screening for monogenic diabetes in primary careBaldacchino, Ian; Pace, Nikolai Paul; Vassallo, Josanne
2021-07Screening for monogenic subtypes of gestational diabetes in a high prevalence island population : a whole exome sequencing studyPace, Nikolai Paul; Vella, Barbara; Craus, Johann; Caruana, Ruth; Savona-Ventura, Charles; Vassallo, Josanne
2022Serum immunoglobulin G is a marker of Hidradenitis suppurativa disease severityMintoff, Dillon; Borg, Isabella; Pace, Nikolai Paul
2022Sex differences in cardiometabolic abnormalities in a middle-aged Maltese populationAgius, Rachel; Pace, Nikolai Paul; Fava, Stephen
2016-01Testosterone and cardiovascular diseaseTambo, Amos; Roshan, Mohsin H.K.; Pace, Nikolai Paul