Detalhe da pesquisa
1.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Hum Genet
; 137(9): 735-752, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167849
2.
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.
J Med Genet
; 54(3): 186-189, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27965375
3.
Mutation of ATF6 causes autosomal recessive achromatopsia.
Hum Genet
; 134(9): 941-50, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063662
4.
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet
; 90(5): 856-63, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22541562
5.
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet
; 16: 41, 2015 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26104215
6.
Identification of Lead Compounds against Scm (fms10) in Enterococcus faecium Using Computer Aided Drug Designing.
Life (Basel)
; 11(2)2021 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33494233
7.
Determination of in vivo biological activities of Dodonaea viscosa flowers against CCL4 toxicity in albino mice with bioactive compound detection.
Sci Rep
; 11(1): 13336, 2021 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172756
8.
Exploration and determination of algal role as Bioindicator to evaluate water quality - Probing fresh water algae.
Saudi J Biol Sci
; 28(10): 5728-5737, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34588884
9.
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
J Bone Miner Res
; 34(2): 375-386, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30395363