Results 161 to 170 of about 6,860 (229)

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

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

Ferroptosis in Podocytes: An Emerging Focus in Kidney Diseases. [PDF]

Biology (Basel)
Feng J, Ma Y, Zhang C.
europepmc   +1 more source

Genetic kidney diseases - from discovery to precision care. [PDF]

Med Genet
Simons M, Hoefele J.
europepmc   +1 more source

Hypophosphatemic rickets: diagnosis and treatment. [PDF]

Arch Endocrinol Metab
Bruneau H, Bergwitz C.
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

An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome. [PDF]

Kidney Med
Yoshida R, Hosokawa M, Ukawa T, Tsurisawa C, Hisaeda Y, Amagata S, Takeda T, Nakao A.   +7 more
europepmc   +1 more source

Cystinosis.

Indian pediatrics, 1986
D, Gera, M J, Mehta, B M, Shah
openaire   +1 more source