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1.
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
J Med Genet
; 58(8): 570-578, 2021 08.
Article
in English
| MEDLINE | ID: mdl-32817297
2.
Low vision rehabilitation for better quality of life in visually impaired adults.
Cochrane Database Syst Rev
; 1: CD006543, 2020 01 27.
Article
in English
| MEDLINE | ID: mdl-31985055
3.
Whole-genome copy-number analysis identifies new leads for chromosomal aberrations involved in the oncogenesis and metastastic behavior of uveal melanomas.
Melanoma Res
; 25(3): 200-9, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25756553
4.
Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.
Arch Ophthalmol
; 130(8): 1038-47, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22491393
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