Detalhe da pesquisa
1.
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Clin Genet
; 101(3): 335-345, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958122
2.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803813
3.
LAMA1 variants were identified Joubert syndrome patient.
Pediatr Int
; 64(1): e14980, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224822
4.
De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
Am J Med Genet A
; 164A(6): 1550-4, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24668897
5.
Pure duplication of 19p13.3.
Am J Med Genet A
; 161A(9): 2300-4, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897601
6.
Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
Am J Med Genet A
; 158A(9): 2347-52, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22887762
7.
RSOsPR10 expression in response to environmental stresses is regulated antagonistically by jasmonate/ethylene and salicylic acid signaling pathways in rice roots.
Plant Cell Physiol
; 52(9): 1686-96, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21828106
8.
A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.
Mol Syndromol
; 12(2): 127-132, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012383
9.
Flow cytometric analysis of peripheral blood and tumor-infiltrating regulatory T cells in dogs with oral malignant melanoma.
J Vet Diagn Invest
; 22(3): 438-41, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20453222
10.
Systemic candidiasis and mesenteric mast cell tumor with multiple metastases in a dog.
J Vet Med Sci
; 71(2): 229-32, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19262039
11.
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5.
Hum Genome Var
; 6: 36, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645974
12.
Expression of RSOsPR10 in rice roots is antagonistically regulated by jasmonate/ethylene and salicylic acid via the activator OsERF87 and the repressor OsWRKY76, respectively.
Plant Direct
; 2(3): e00049, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245715
13.
Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13.
Congenit Anom (Kyoto)
; 60(2): 73-74, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206199
14.
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.
Congenit Anom (Kyoto)
; 52(2): 78-81, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22639992
15.
Relationship between regulatory and type 1 T cells in dogs with oral malignant melanoma.
Microbiol Immunol
; 54(3): 152-9, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20236425
16.
Increase of regulatory T cells in the peripheral blood of dogs with metastatic tumors.
Microbiol Immunol
; 53(8): 468-74, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19659931
17.
Análise de ponto: estudo preliminar / Point analysis: preliminary study
Inf. psiquiatr
; 8(2): 64-6, abr.-jun. 1989. ilus
Artigo
em Português
| LILACS | ID: lil-78576