Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Cassondra Brown"'
Autor:
S. Shahrukh Hashmi, Jacqueline T. Hecht, Michael B. Bober, Richard M. Pauli, Cassondra Brown, Adekemi Yewande Alade, Peggy Modaff, Julie Hoover-Fong, Candace Gamble, Meagan Carney
Publikováno v:
American Journal of Medical Genetics Part A. 176:2359-2364
Sudden death and higher mortality are recognized in achondroplasia, with acute brainstem compression, a common cause of mortality in children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9fcc21e500c5e14fdf45a613cb83a4e
https://doi.org/10.1002/ajmg.a.40528
https://doi.org/10.1002/ajmg.a.40528
Autor:
Samuel G. Jacobson, Sharon B. Schwartz, Alexander Sumaroka, Susanne Kohl, Alejandro J. Roman, Dror Sharon, Artur V. Cideciyan, Boris Rosin, Bernd Wissinger, Lina Zelinger, Eyal Banin, Anat Blumenfeld, Ada Rosenmann, Cassondra Brown, Dalia Eli, Xunda Luo
Publikováno v:
Ophthalmology. 122:997-1007
Purpose Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, reduced visual acuity and color vision, nystagmus, and photoaversion. Five genes are known causes of ACHM. The present study took steps
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c38a103f7c921672b2f1b738b7a6468
https://doi.org/10.1016/j.ophtha.2014.11.025
https://doi.org/10.1016/j.ophtha.2014.11.025
Autor:
Lina, Zelinger, Artur V, Cideciyan, Susanne, Kohl, Sharon B, Schwartz, Ada, Rosenmann, Dalia, Eli, Alexander, Sumaroka, Alejandro J, Roman, Xunda, Luo, Cassondra, Brown, Boris, Rosin, Anat, Blumenfeld, Bernd, Wissinger, Samuel G, Jacobson, Eyal, Banin, Dror, Sharon
Publikováno v:
Ophthalmology. 122(5)
Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that manifests cone dysfunction, reduced visual acuity and color vision, nystagmus, and photoaversion. Five genes are known causes of ACHM. The present study took steps toward
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b6d8358caea02f12f59a40dead57b60e
https://pubmed.ncbi.nlm.nih.gov/25616768
https://pubmed.ncbi.nlm.nih.gov/25616768