Detalhe da pesquisa
1.
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning.
Am J Hum Genet
; 109(2): 270-281, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063063
2.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Am J Hum Genet
; 108(2): 337-345, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33434492
3.
Deep learning-based multimodal image analysis for cervical cancer detection.
Methods
; 205: 46-52, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35598831
4.
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome.
Genet Med
; 24(11): 2262-2273, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112137
5.
A genotype-first analysis in a cohort of Mullerian anomaly.
J Hum Genet
; 67(6): 347-352, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022528
6.
The utility of hierarchical genetic testing in paediatric liver disease.
Liver Int
; 42(5): 1097-1108, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257483
7.
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).
J Med Genet
; 58(1): 41-47, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32381727
8.
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Cell Rep Methods
; 4(1): 100687, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38211594
9.
Effects of saponins isolated from Polygonatum sibiricum on H2O2-induced oxidative damage in RIN-m5F cells and its protective effect on pancreas.
Food Chem Toxicol
; 175: 113724, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36935075
10.
Chewing Gum Cannot Reduce Postoperative Abdominal Pain and Nausea After Posterior Spinal Fusions in Patients With Adolescent Idiopathic Scoliosis: A Systematic Review and Meta-analysis of Randomized Controlled Trials.
Clin Spine Surg
; 36(10): 470-475, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37684717
11.
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature: A Systematic Review and Meta-Analysis.
JAMA Pediatr
; 177(11): 1149-1157, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695591
12.
Fatal hemophagocytic lymphohistiocytosis-induced multiorgan dysfunction secondary to Burkholderia pseudomallei sepsis: A case report.
World J Clin Cases
; 11(30): 7372-7379, 2023 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37969441
13.
Polygonatum sibiricum saponin Exerts Beneficial Hypoglycemic Effects in Type 2 Diabetes Mice by Improving Hepatic Insulin Resistance and Glycogen Synthesis-Related Proteins.
Nutrients
; 14(24)2022 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36558381
14.
The potential mechanisms of neuroblastoma in children based on bioinformatics big data.
Transl Pediatr
; 11(12): 1908-1919, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36643678
15.
Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly.
Front Genet
; 13: 804202, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35360850
16.
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
NPJ Genom Med
; 7(1): 11, 2022 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35169139
17.
Efficacy of probiotics in the treatment of acute diarrhea in children: a systematic review and meta-analysis of clinical trials.
Transl Pediatr
; 10(12): 3248-3260, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35070839
18.
Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.
Genes (Basel)
; 12(10)2021 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34681008
19.
Deciphering the mutational signature of congenital limb malformations.
Mol Ther Nucleic Acids
; 24: 961-970, 2021 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34094714
20.
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
NPJ Genom Med
; 6(1): 104, 2021 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34876591