Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Natario Couser"'
Autor:
Rithvik Nalamalapu, Julie Bayer-Vile, Christopher Leffler, Katherine Peplow, Jessica Randolph, Natario Couser
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101163- (2024)
Externí odkaz:
https://doaj.org/article/6c1b8b4e88514ecea2842fd188ddfa9f
Autor:
Stephanie Pan, Natario Couser
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101270- (2024)
Externí odkaz:
https://doaj.org/article/777e9f5c12d84789b57b37b141b1ca29
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101291- (2024)
Externí odkaz:
https://doaj.org/article/263f33142ad3445796095ecfb915b1e3
Autor:
Jane Choi, Natario Couser
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101302- (2024)
Externí odkaz:
https://doaj.org/article/a7d7f7f77bbf4311b5b081419d46d3f5
Publikováno v:
Clinical Case Reports, Vol 11, Iss 9, Pp n/a-n/a (2023)
Key Clinical Message Our case report and review contribute to the understanding of ocular manifestations in NPHP1 ciliopathies by reinforcing the relationship between pathogenic genetic variants and a wide array of ophthalmic abnormalities.
Externí odkaz:
https://doaj.org/article/fb43a3ae2a2f4deaa3a7f8ea6895f8fd
Publikováno v:
Clinical Case Reports, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Variants in the C21orf2 (CFAP410) gene have recently been associated with the development of retinitis pigmentosa, an inherited condition characterized by degeneration of the retina. In this article, we describe 34 previously reported cases
Externí odkaz:
https://doaj.org/article/737add8d03964f6d9aba8286fdd96452
Publikováno v:
International Journal of Ophthalmology, Vol 14, Iss 8, Pp 1291-1292 (2021)
Externí odkaz:
https://doaj.org/article/1dbde685c0ab4694811056ad5589c0d4
Publikováno v:
Case Reports in Ophthalmological Medicine, Vol 2018 (2018)
Turner syndrome is a common sex chromosome disorder affecting females. The disorder is caused by a partial loss, complete absence, or structural abnormality of one X chromosome. The clinical presentation is broad and ranges from the classic phenotype
Externí odkaz:
https://doaj.org/article/f0d3fff223294d67a89b18a47873d2a5
Publikováno v:
American Journal of Medical Genetics Part A. 191:1639-1645
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da75c481410f6e959bb41d30e7cd5acc
https://doi.org/10.1002/ajmg.a.63186
https://doi.org/10.1002/ajmg.a.63186
Autor:
Kevin Babu, Kimberly Seamon, Ann Jewell, Anna Harrison, Amy Harper, Hind Al Saif, Natario Couser
Publikováno v:
Ophthalmic Genetics. :1-6
Hereditary Motor Sensory Neuropathy Type VIA with Optic Atrophy (HMSN6A) is a rare variant subtype of mitofusin 2 (HMSN6A is a neurologic disorder characterized by a motor sensory axonal neuropathy and optic atrophy. A range of additional ophthalmic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67c642221822ab38f904e78093e2629
https://doi.org/10.1080/13816810.2022.2116651
https://doi.org/10.1080/13816810.2022.2116651