Author/Creator: Borg, Isabella - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Borg, Isabella

1. A novel SPINK5 donor splice site variant in a child with Netherton syndrome. Issue 3 (3rd February 2021)

Authors:: Mintoff, Dillon; Borg, Isabella; Vornweg, Julia; Mercieca, Liam; Merdzanic, Rijad; Numrich, Johannes; Aquilina, Susan; Pace, Nikolai Paul; Fischer, Judith
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 9:Issue 3(2021)
Page Start:: n/a
Record Type:: Journal Article
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2. A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation. Issue 12 (13th October 2020)

Authors:: Pace, Nikolai Paul; Pace Bardon, Michael; Borg, Isabella
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 8:Issue 12(2020)
Page Start:: n/a
Record Type:: Journal Article
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3. Fundus phenotype in retinitis pigmentosa associated with EYS mutations. (3rd September 2018)

Authors:: Mucciolo, Dario Pasquale; Sodi, Andrea; Passerini, Ilaria; Murro, Vittoria; Cipollini, Francesca; Borg, Isabella; Pelo, Elisabetta; Contini, Elisa; Virgili, Gianni; Rizzo, Stanislao
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 5(2018)
Page Start:: 589
Record Type:: Journal Article
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4. Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date. Issue 1 (14th July 2021)

Authors:: Scicluna, Kirsty; Formosa, Melissa M.; Farrugia, Rosienne; Borg, Isabella
Journal:: Clinical genetics
Issue:: Volume 101:Issue 1(2022)
Page Start:: 20
Record Type:: Journal Article
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5. Two novel GJA1 variants in oculodentodigital dysplasia. Issue 9 (25th July 2019)

Authors:: Pace, Nikolai P.; Benoit, Valerie; Agius, David; Grima, Maria Angela; Parascandalo, Raymond; Hilbert, Pascale; Borg, Isabella
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 7:Issue 9(2019)
Page Start:: n/a
Record Type:: Journal Article
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