Detalhe da pesquisa
1.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Am J Hum Genet
; 111(4): 701-713, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531366
2.
Genetic profile of syndromic retinitis pigmentosa in Portugal.
Graefes Arch Clin Exp Ophthalmol
; 262(6): 1883-1897, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38189974
3.
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV.
Hum Mutat
; 43(12): 2326-2327, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317447
4.
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
Proc Natl Acad Sci U S A
; 102(27): 9553-8, 2005 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-15976030