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of 6
pro vyhledávání: '"David Agius"'
Autor:
Nikolai P. Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Pascale Hilbert, Isabella Borg
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Oculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (GJA1) gene. GJA1 gene encodes a polytopic connexin membrane p
Externí odkaz:
https://doaj.org/article/63bb037d72734443904d98c8d54d19ae
Publikováno v:
European Journal of Case Reports in Internal Medicine, Vol 2, Iss 5 (2015)
The authors describe the unusual case of a 63-year-old patient who was referred with fever and lethargy, and was found to be hyponatraemic. The patient subsequently developed hemiparesis, and neuroradiology showed several space-occupying brain lesion
Externí odkaz:
https://doaj.org/article/3bf435af01554139b93f3a31f1f6f58a
Publikováno v:
Acta Ophthalmologica. 100
Autor:
David Agius, Raymond Parascandalo, Nikolai Paul Pace, Pascale Hilbert, Maria Angela Grima, Isabella Borg, Valerie Benoit
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Background: Oculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (GJA1) gene. GJA1 gene encodes a polytopic connexin membrane protein,
Publikováno v:
JCR: Journal of Clinical Rheumatology. 27:e6-e7
Publikováno v:
European Journal of Case Reports in Internal Medicine, Vol 2, Iss 5 (2015)
The authors describe the unusual case of a 63-year-old patient who was referred with fever and lethargy, and was found to be hyponatraemic. The patient subsequently developed hemiparesis, and neuroradiology showed several space-occupying brain lesion