Detalhe da pesquisa
1.
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.
J Hum Genet
; 69(3-4): 119-123, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200111
2.
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
Cancer Sci
; 114(7): 2993-3002, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37067535
3.
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.
J Med Genet
; 58(6): 427-432, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576657
4.
Bifidobacterium-Rich Fecal Donor May Be a Positive Predictor for Successful Fecal Microbiota Transplantation in Patients with Irritable Bowel Syndrome.
Digestion
; 96(1): 29-38, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28628918
5.
Phytochrome controls alternative splicing to mediate light responses in Arabidopsis.
Proc Natl Acad Sci U S A
; 111(52): 18781-6, 2014 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25512548
6.
Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.
Am J Med Genet A
; 185(3): 952-954, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369046
7.
The RS domain of Arabidopsis splicing factor RRC1 is required for phytochrome B signal transduction.
Plant J
; 70(5): 727-38, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22324426
8.
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.
Hum Genome Var
; 9(1): 3, 2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35034951
9.
The effect of fecal microbiota transplantation on psychiatric symptoms among patients with irritable bowel syndrome, functional diarrhea and functional constipation: An open-label observational study.
J Affect Disord
; 235: 506-512, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29684865
10.
Fecal microbiota transplantation for recurrent Clostridium difficile infection in a patient with ulcerative colitis.
Intest Res
; 16(1): 142-146, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29422809
11.
Single fecal microbiota transplantation failed to change intestinal microbiota and had limited effectiveness against ulcerative colitis in Japanese patients.
Intest Res
; 15(1): 68-74, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28239315
12.
Deletion of the RS domain of RRC1 impairs phytochrome B signaling in Arabidopsis.
Plant Signal Behav
; 7(8): 933-6, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22751357