Showing results 42 to 62 of 62
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Issue Date | Title | Author(s) |
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 |
2022 | A novel population of activated cytotoxic T cells infiltrate pituitary neuroendocrine tumour subytpes | Mazzitelli, Oriana; Ebejer, Jean Paul; Pace, Nikolai Paul; Gruppetta, Mark; Vassallo, Josanne; Saliba, David |
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 |
2019 | Phenotypic and genetic markers of disease severity in a Maltese IBD cohort | Schembri, J.; Pace, Nikolai Paul; Piscopo, N.; Degenhardt, F.; Franke, A.; Ellul, P. |
2016-07-26 | Potential role of caffeine in the treatment of Parkinson’s disease | Roshan, Mohsin H.K.; Tambo, Amos; Pace, Nikolai Paul |
2016 | Prevalence of obesity in Malta | Cuschieri, Sarah; Vassallo, Josanne; Calleja, Neville; Camilleri, Ryan; Ayrton Borg, Axisa; Bonnici, Gary; Zhang, Yimeng; Pace, Nikolai Paul; Mamo, Julian |
2022 | Prevalence rates of metabolic health and body size phenotypes by different criteria and association with insulin resistance in a Maltese Caucasian population | Agius, Rachel; Fava, Marie Claire; Pace, Nikolai Paul; Fava, Stephen |
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 |
2022 | Reduced leukocyte mitochondrial copy number in metabolic syndrome and metabolically healthy obesity | Agius, Rachel; Pace, Nikolai Paul; Fava, Stephen |
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 |
2022 | RNA profiling of human growth hormone-secreting and non-functioning pituitary adenomas reveals novel and differentially expressed immune related genes | Spiteri, Emma Jayne; Formosa, Robert; Ebejer, Jean Paul; Pace, Nikolai Paul; Gruppetta, Mark; Saliba, David; Vassallo, Josanne |
2022 | The role of risk factors and biochemical markers in the susceptibility of hormone dependent malignancies | Micallef Fava, A.; Pace, Nikolai Paul; Savona-Ventura, Charles |
2016-11-10 | The role of testosterone in colorectal carcinoma : pathomechanisms and open questions | Roshan, Mohsin H.K.; Tambo, Amos; Pace, Nikolai Paul |
2016-09 | The role of TLR2, TLR4, and TLR9 in the pathogenesis of atherosclerosis | Roshan, Mohsin H.K.; Tambo, Amos; Pace, Nikolai Paul |
2020-02 | Screening for monogenic diabetes in primary care | Baldacchino, Ian; Pace, Nikolai Paul; Vassallo, Josanne |
2021-07 | Screening for monogenic subtypes of gestational diabetes in a high prevalence island population : a whole exome sequencing study | Pace, Nikolai Paul; Vella, Barbara; Craus, Johann; Caruana, Ruth; Savona-Ventura, Charles; Vassallo, Josanne |
2022 | Serum immunoglobulin G is a marker of Hidradenitis suppurativa disease severity | Mintoff, Dillon; Borg, Isabella; Pace, Nikolai Paul |
2022 | Sex differences in cardiometabolic abnormalities in a middle-aged Maltese population | Agius, Rachel; Pace, Nikolai Paul; Fava, Stephen |
2016-01 | Testosterone and cardiovascular disease | Tambo, Amos; Roshan, Mohsin H.K.; 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 |