Detalhe da pesquisa
1.
TMEM161B modulates radial glial scaffolding in neocortical development.
Proc Natl Acad Sci U S A
; 120(4): e2209983120, 2023 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669109
2.
Analytical and Clinical Validation of a Target-Enhanced Whole Genome Sequencing-Based Comprehensive Genomic Profiling Test.
Cancer Invest
; : 1-10, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38773925
3.
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Blood
; 138(21): 2117-2128, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115847
4.
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Am J Med Genet A
; 191(11): 2757-2767, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596828
5.
RNA-seq profiling of tubulointerstitial tissue reveals a potential therapeutic role of dual anti-phosphatase 1 in glomerulonephritis.
J Cell Mol Med
; 26(12): 3364-3377, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488446
6.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
Am J Hum Genet
; 105(4): 844-853, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585108
7.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet
; 105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587868
8.
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
J Med Genet
; 58(4): 237-246, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439809
9.
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Genet Med
; 23(3): 524-533, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188300
10.
The Role of TNF Superfamily Member 13 in the Progression of IgA Nephropathy.
J Am Soc Nephrol
; 27(11): 3430-3439, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27068226
11.
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Am J Med Genet A
; 170(11): 3023-3027, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27411168
12.
Delay-dependent Lurie-Postnikov type Lyapunov-Krasovskii functionals for stability analysis of discrete-time delayed neural networks.
Neural Netw
; 173: 106195, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38394998
13.
Resolving the non-uniformity in the feature space of age estimation: A deep learning model based on feature clusters of panoramic images.
Comput Med Imaging Graph
; 112: 102329, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271869
14.
Clinical Utility of Whole-Genome Analysis as One-for-All Test for Breast Cancer: A Case Series.
Case Rep Oncol
; 17(1): 317-328, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38404405
15.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Science
; 384(6695): 584-590, 2024 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696583
16.
Current smoking is associated with a poor visual acuity improvement after intravitreal ranibizumab therapy in patients with exudative age-related macular degeneration.
J Korean Med Sci
; 28(5): 769-74, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23678271
17.
Prognostic factors for visual recovery after transsphenoidal pituitary adenectomy.
Br J Neurosurg
; 27(4): 425-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23421587
18.
Enhanced Results on Sampled-Data Synchronization for Chaotic Neural Networks With Actuator Saturation Using Parameterized Control.
IEEE Trans Neural Netw Learn Syst
; PP2023 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37028081
19.
Congenital lacrimal fistula associated with Down syndrome.
Graefes Arch Clin Exp Ophthalmol
; 250(10): 1515-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22706405
20.
Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.
J Allergy Clin Immunol
; 137(1): 327-330, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26478010