Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ana, Wert"'
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2262 (2021)
This study aims to genetically characterize a two-year-old patient suffering from multiple systemic abnormalities, including skeletal, nervous and developmental involvements and Leber congenital amaurosis (LCA). Genetic screening by next-generation s
Externí odkaz:
https://doaj.org/article/9e9a6e3939a44f2990145fbf4a7b1169
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 26:160-161
We present the case report of a patient who presented with intermittent diplopia and left hypertropia associated with an apparent left superior oblique palsy. After dissociation with cover testing, he showed conjugate rhythmic vertical eye movements
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f0879816c10d864e3127124174aeb08
https://doi.org/10.1016/j.jaapos.2022.02.010
https://doi.org/10.1016/j.jaapos.2022.02.010
Publikováno v:
Ophthalmic Plastic & Reconstructive Surgery. 34:565-569
PURPOSE To compare 2 surgical techniques (frontalis flap versus maximal anterior levator resection) as first surgical options for the treatment of congenital ptosis with poor levator function in patients younger than 2 years of age with a follow up o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a073b67e242983b2279a96afca02810
https://doi.org/10.1097/iop.0000000000001105
https://doi.org/10.1097/iop.0000000000001105
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f3cab9987c514a166719ba07b5aa789
https://pubmed.ncbi.nlm.nih.gov/29178648
https://pubmed.ncbi.nlm.nih.gov/29178648