Detalhe da pesquisa
1.
Genetic diversity, distribution and domestication history of the neglected GGAtAt genepool of wheat.
Theor Appl Genet
; 135(3): 755-776, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34283259
2.
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.
Clin Genet
; 99(5): 673-683, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33463715
3.
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
J Hum Genet
; 63(8): 919-922, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760529
4.
Correction to: Genetic diversity, distribution and domestication history of the neglected GGAtAt genepool of wheat.
Theor Appl Genet
; 134(10): 3493, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34379147
5.
Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.
Genes (Basel)
; 12(6)2021 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071867
6.
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.
J Neuromuscul Dis
; 8(2): 273-285, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337382
7.
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.
Eur J Hum Genet
; 29(6): 965-976, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767456
8.
Molecular markers based on LTR retrotransposons BARE-1 and Jeli uncover different strata of evolutionary relationships in diploid wheats.
Mol Genet Genomics
; 283(6): 551-63, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20407790
9.
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Orphanet J Rare Dis
; 15(1): 207, 2020 08 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32791987
10.
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.
J Pediatr Genet
; 8(2): 58-62, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31061747
11.
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
BMC Med Genomics
; 11(Suppl 1): 8, 2018 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29504900
12.
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.
J Invest Dermatol
; 136(6): 1097-1105, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26902920