Concepedia
Statistics
Publications
11
Citations
331
H-Index
Active since
1995
Affiliations
University of Malta(Current)
Mater Dei Hospital
Addenbrooke's Hospital
Assistance Publique – Hôpitaux de Paris
Max Planck Institute for Molecular Genetics
Isabella Borg is an author at University of Malta specializing in life sciences, genetics, and medical genetics.
Publications per year
1995–2023
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome
Isabella Borg, Kristine Freude, Sabine Kübart et al. · European Journal of Human Genetics · 2005 · 96 citations
Life Sciences, Genetics, Molecular Genetics +14
A cryptic deletion of 2q35 including part of the <i>PAX3</i> gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation
Isabella Borg · Journal of Medical Genetics · 2002 · 49 citations · Full text
Life Sciences, Biotechnology, Immunology +17
Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.
Isabella Borg, Joy Delhanty, M Baraitser · Journal of Medical Genetics · 1995 · 46 citations · Full text
Life Sciences, Genetics, Molecular Genetics +10
Wide disparity of clinical genetics services and EU rare disease research funding across Europe
Sally Ann Lynch, Isabella Borg · Journal of Community Genetics · 2015 · 29 citations · Full text
Life Sciences, Genetics, Molecular Genetics +8
<i>NCSTN</i> In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa
Dillon Mintoff, Nikolai Paul Pace, Isabella Borg · JAMA Dermatology · 2023 · 21 citations · Full text
Life Sciences, Genetics, Molecular Genetics +11
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