Results 141 to 150 of about 2,525,884 (192)

Cone-Rod Dystrophy <i>PCARE</i>-Associated Retinopathy. [PDF]

Diagnostics (Basel)
Sopena-Pinilla M, Arruebo-Muñio M, Arias-Alvarez M, Arcas-Carbonell M, Tejada-González P, Lahuerta-Pueyo C, Pérez García D, Pinilla I.   +7 more
europepmc   +1 more source

Pilot Study of Patient-Reported Outcomes in Stargardt Disease: Correlation With Functional and Structural Findings. [PDF]

Invest Ophthalmol Vis Sci
Hoang J, Amiri I, Dimalanta L, Iannaccone A, Zhang AY.   +4 more
europepmc   +1 more source

Paediatric Genetic Diseases: Models, Mechanisms and Therapies. [PDF]

Dis Model Mech
Hooper K.
europepmc   +1 more source

Using RNA-targeting CRISPR-Cas13 and engineered U1 systems to target <i>ABCA4</i> splice variants in Stargardt disease. [PDF]

Mol Ther Nucleic Acids
Liou RH, Urrutia-Cabrera D, Liu CF, Wu S, Westin IM, Golovleva I, Liu GS, Kumar S, McLenachan S, Chen FK, Hsu FT, Huang CL, Edwards T, Martin KR, Cheng AW, Wong RCB.   +15 more
europepmc   +1 more source

Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease. [PDF]

Invest Ophthalmol Vis Sci
Pas JAAH, Künzel SH, Ansari G, Pfau K, Chang P, Herrmann P, Holz FG, Hoyng CB, Pfau M.   +8 more
europepmc   +1 more source

Juvenile macular degeneration in nonhuman primates generated by germline knockout of ABCA4 gene

Science Bulletin
Ya, Ma, Qiang, Lin, Hai-Long, He, Yi-Xin, Liu, Min, Li, Xiao-Hui, Zhang, Zi-Bing, Jin   +6 more
openaire   +2 more sources

Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology. [PDF]

Mol Genet Genomics
Petrin AL, Machado-Paula LA, Keen HL, Hovey L, Doolittle B, Dunlay L, Awotoye W, Xie XJ, Zeng E, Butali A, Marazita ML, Murray JC, Moreno-Uribe LM.   +12 more
europepmc   +1 more source

More insights from Abca4^-/- mouse models of recessive Stargardt disease. [PDF]

J Biol Chem
Zhao J, Montenegro D, Cheng S, Kim HJ, Sparrow JR.   +4 more
europepmc   +1 more source

Reproductive carrier screening among Chinese couples experiencing unexplained recurrent pregnancy loss. [PDF]

BMC Pregnancy Childbirth
Duan H, Jiang Z, Zhang Y, Zhou C, Li J.
europepmc   +1 more source