Detalhe da pesquisa
1.
Disease spreading modeling and analysis: a survey.
Brief Bioinform
; 23(4)2022 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35692095
2.
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.
Clin Genet
; 106(1): 109-113, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38665048
3.
A comparative benchmark of classic DNA motif discovery tools on synthetic data.
Brief Bioinform
; 22(6)2021 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34351399
4.
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits.
Nucleic Acids Res
; 49(D1): D1282-D1288, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33300029
5.
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants.
Nat Commun
; 14(1): 5058, 2023 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37598215
6.
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Front Genet
; 14: 1307934, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38239854
7.
Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression.
Comput Struct Biotechnol J
; 21: 5296-5308, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37954145
8.
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Eur J Hum Genet
; 31(4): 479-484, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599940
9.
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Front Endocrinol (Lausanne)
; 14: 1205977, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600704
10.
Beyond COVID-19 pandemic: Topology-aware optimization of vaccination strategy for minimizing virus spreading.
Comput Struct Biotechnol J
; 20: 2664-2671, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35664237
11.
RhythmicDB: A Database of Predicted Multi-Frequency Rhythmic Transcripts.
Front Genet
; 13: 882044, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35774515
12.
Connecting the dots: A practical evaluation of web-tools for describing protein dynamics as networks.
Front Bioinform
; 2: 1045368, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36438625
13.
KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma.
Comput Struct Biotechnol J
; 20: 3151-3160, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782738
14.
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Mol Neurobiol
; 59(8): 4825-4838, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35639255
15.
Phosphorylation within Intrinsic Disordered Region Discriminates Histone Variant macroH2A1 Splicing Isoforms-macroH2A1.1 and macroH2A1.2.
Biology (Basel)
; 10(7)2021 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356514
16.
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Bone
; 144: 115803, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33333243
17.
Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome.
Comput Struct Biotechnol J
; 18: 2033-2042, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32802275
18.
Pyntacle: a parallel computing-enabled framework for large-scale network biology analysis.
Gigascience
; 9(10)2020 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33084878
19.
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Mol Genet Genomic Med
; 8(8): e1336, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32519823
20.
Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?
Evol Bioinform Online
; 15: 1176934319850144, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31205410