Detalhe da pesquisa
1.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Hum Mol Genet;
32(9): 1429-1438, 2023 04 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36440975
2.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet;
60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37586838
3.
A Comparison Study of Deep Learning Methodologies for Music Emotion Recognition.
Sensors (Basel);
24(7)2024 Mar 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38610412
4.
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Am J Hum Genet;
106(6): 872-884, 2020 06 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32470376
5.
Woodhouse-Sakati Syndrome: First report of a Portuguese case.
Am J Med Genet A;
179(11): 2237-2240, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31347785
6.
16q22.1 microdeletion and anticipatory guidance.
Am J Med Genet A;
179(7): 1287-1292, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31141312
7.
Development of a Device-Assisted Nerve-Regeneration Procedure in Disruptive Lesions of the Brachial Plexus.
J Reconstr Microsurg;
34(6): 389-398, 2018 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29510417
8.
Phenotyping GABA transaminase deficiency: a case description and literature review.
J Inherit Metab Dis;
39(5): 743-747, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27376954
9.
A high affinity and specificity anti-HER2 single-domain antibody (VHH) that targets trastuzumab's epitope with versatile biochemical, biological, and medical applications.
Immunol Res;
72(1): 103-118, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37632647
10.
A Collective Intelligence Platform to Support Older Cancer Survivors: Towards the Definition of LifeChamps System and Big Data Reference Architecture.
Stud Health Technol Inform;
290: 1008-1009, 2022 Jun 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35673179
11.
Challenges and Considerations on Risk-Reducing Surgery in BRCA1/2 Patients with Advanced Breast Cancer.
Curr Oncol;
28(1): 485-490, 2021 01 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33466630
12.
Reciprocal nerve staining (RNS) for the concurrent detection of choline acetyltransferase and myelin basic protein on paraffin-embedded sections.
J Neurosci Methods;
311: 235-238, 2019 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30391262
13.
Bioengineered adipose-derived stem cells for targeted enzyme-prodrug therapy of ovarian cancer intraperitoneal metastasis.
J Control Release;
311-312: 273-287, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31499084
14.
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Eur J Med Genet;
60(2): 130-135, 2017 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27915094
15.
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Eur J Hum Genet;
23(9): 1176-85, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25424714
16.
Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
Eur J Hum Genet;
23(9): 1270, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26269249