Zobrazeno 1 - 10
of 70
pro vyhledávání: '"whole exome-genome sequencing"'
Autor:
Meiyan Liu, Xiaoang Sun, Longlong Lin, Xiaona Luo, Simei Wang, Chunmei Wang, Yuanfeng Zhang, Quanmei Xu, Wuhen Xu, Shengnan Wu, Xiaoping Lan, Yucai Chen
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundProline-rich transmembrane protein 2 (PRRT2) plays an important role in the central nervous system and mutations in the gene are implicated in a variety of neurological disorders. This study aimed to summarize the clinical characteristics a
Externí odkaz:
https://doaj.org/article/670301d0ffc2493382032d19678ff992
Autor:
Limor Kalfon, Meirav Baydany, Nadra Samra, Nawaf Heno, Zvi Segal, Ayelet Eran, Alon Yulevich, Yakov Fellig, Hanna Mandel, Tzipora C. Falik‐Zaccai
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
Abstract Background We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia. Methods Clinical investigations, homozygosity mapping, linkage an
Externí odkaz:
https://doaj.org/article/68506831cfa44c3bb2b086bb6392ae3a
Akademický článek
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Autor:
Aline Rangel-Pozzo, Songyan Liu, Gabriel Wajnberg, Xuemei Wang, Rodney J. Ouellette, Geoffrey G. Hicks, Darrel Drachenberg, Sabine Mai
Publikováno v:
Cells, Vol 9, Iss 8, p 1863 (2020)
Accurate risk classification of men with localized high-risk prostate cancer directly affects treatment management decisions and patient outcomes. A wide range of risk assessments and classifications are available. However, each one has significant l
Externí odkaz:
https://doaj.org/article/bc47771efbdb4a6ca75dcd8536ceebfc
Publikováno v:
Indian Journal of Ophthalmology, Vol 61, Iss 8, Pp 461-464 (2013)
Acute corneal hydrops is a condition characterized by stromal edema due to leakage of aqueous through a tear in descemet membrane. The patient presents with sudden onset decrease in vision, photophobia, and pain. Corneal thinning and ectasias combine
Externí odkaz:
https://doaj.org/article/c4b4a37565a14703adddb405bcd9da39
Publikováno v:
Indian Journal of Ophthalmology, Vol 61, Iss 8, Pp 416-419 (2013)
Before the discovery of corneal cross-linking (CXL), patients with keratoconus would have had to undergo corneal transplantation, or wear rigid gas permeable lenses (RGPs) that would temporarily flatten the cone, thereby improving the vision. The RGP
Externí odkaz:
https://doaj.org/article/0b75fe673c894892bafbefb01dce1f90
Publikováno v:
Indian Journal of Ophthalmology, Vol 61, Iss 8, Pp 410-415 (2013)
Contact lenses are required for the visual improvement in patients with keratoconus. Various contact lens options, such as rigid gas permeable (RGP) lenses, soft and soft toric lenses, piggy back contact lenses (PBCL), hybrid lenses and scleral lense
Externí odkaz:
https://doaj.org/article/152ebf4f3d0946ccbc6c4aaf9ad6f3a0
Autor:
Nallathambi Jeyabalan, Rohit Shetty, Anuprita Ghosh, Venkata Ramana Anandula, Arka Subhra Ghosh, Govindasamy Kumaramanickavel
Publikováno v:
Indian Journal of Ophthalmology, Vol 61, Iss 8, Pp 384-388 (2013)
Keratoconus (KC; Mendelian Inheritance in Man (OMIM) 14830) is a bilateral, progressive corneal defect affecting all ethnic groups around the world. It is the leading cause of corneal transplantation. The age of onset is at puberty, and the disorder
Externí odkaz:
https://doaj.org/article/73307d9dfb384408841ea38755cc4541
Autor:
Michael W Belin, Renato Ambrósio
Publikováno v:
Indian Journal of Ophthalmology, Vol 61, Iss 8, Pp 401-406 (2013)
Scheimpflug cross-sectioning anterior segment imaging offers significant advantages over traditional placido based curvature analysis and ultrasound pachymetry. The accurate measurement of both the anterior and posterior corneal surfaces and the ante
Externí odkaz:
https://doaj.org/article/61015823e2ed445b9d2db566fd5db925
Publikováno v:
Indian Journal of Ophthalmology, Vol 61, Iss 8, Pp 445-450 (2013)
Keratoconus is a progressive ectatic disorder of the cornea which often presents with fluctuating refraction and high irregular astigmatism. Correcting the vision of these patients is often a challenge because glasses are unable to correct the irregu
Externí odkaz:
https://doaj.org/article/16186b0519134dd4b316a59f4b9f7124