Results 181 to 190 of about 7,764 (252)

Zinc finger nuclease gene repair as a treatment for cystinosis

, 2013
Katrin Kaschig
openalex   +1 more source

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis. [PDF]

BMC Genom Data
Adda Neggaz L, Dahmani AC, Derriche I, Adda Neggaz N, Boudjema A.   +4 more
europepmc   +1 more source

Crystalline keratopathy in nephropathic cystinosis

, 2019
Priyanka Choudhary, Girish Chandra Bhatt, Amber Kumar, Brijesh Takkar   +3 more
openalex   +2 more sources

Shimmering Clarity: A Rare Case Report of Ocular Cystinosis. [PDF]

Case Rep Ophthalmol
Angadi AM, Jakhalu K, Mushtaq I, Shah S.
europepmc   +1 more source

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report. [PDF]

JIMD Rep
Taj R, Ng K, Cuddapah SR, Rand EB, Bleicher M, Amaral S, Hoteit MA, Reddy RK, Feyssa E, Furth EE, Olthoff KM, Abu-Gazala S, Levine MH, Vyas F, Abt PL.   +14 more
europepmc   +1 more source

Theranostic Contact Lens for Ocular Cystinosis Utilizing Gold Nanoparticles. [PDF]

Biosensors (Basel)
Ha E, Kang H, Noh H.
europepmc   +1 more source

医薬品化学 [PDF]

, 1986
吉井 英一, 堀 耕造, 山崎 高應, 平井 美朗, 武田 敬, 的場 勝英, 野村 敬一, 高畑 広紀   +7 more
core   +1 more source

Ocular Involvement in Infantile Cystinosis: A Case Report. [PDF]

Cureus
Razzak A, Ait Ammar H, Bouazza M, Elbelhadji M.   +3 more
europepmc   +1 more source

Cystinosis metabolic bone disease: inflammatory profile in human peripheral blood mononuclear cells and derived osteoclasts. [PDF]

Eur J Pediatr
Alioli C, Greco M, Méaux MN, Harambat J, Topaloglu R, Nobili F, Bertholet-Thomas A, Rousset-Rouviere C, Portefaix A, Dumortier C, Emma F, Machuca-Gayet I, Bacchetta J.   +12 more
europepmc   +1 more source

Editorial: Special Issue "Genetic Newborn Screening". [PDF]

Genes (Basel)
Nishio H, Awano H.
europepmc   +1 more source