Detalhe da pesquisa
1.
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Am J Med Genet A
; 191(9): 2376-2391, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293956
2.
Pediatric Acute Lymphoblastic Leukemia Emerging Therapies-From Pathway to Target.
Int J Mol Sci
; 24(5)2023 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36902091
3.
Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.
Int J Mol Sci
; 24(11)2023 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298158
4.
Clinical, Pathological and Molecular Insights on KRAS, NRAS, BRAF, PIK3CA and TP53 Mutations in Metastatic Colorectal Cancer Patients from Northeastern Romania.
Int J Mol Sci
; 24(16)2023 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628868
5.
Towards Multifractality through an Ernst-Type Potential in Complex Systems Dynamics.
Entropy (Basel)
; 25(8)2023 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628179
6.
Coherences in the Dynamics of Physical Systems from a Multifractal Perspective of Motion.
Entropy (Basel)
; 25(8)2023 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628173
7.
Implications and Consequences of SL(2R) as Invariance Group in the Description of Complex Systems Dynamics from a Multifractal Perspective of Motion.
Entropy (Basel)
; 24(4)2022 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35455147
8.
Multifractality through Non-Markovian Stochastic Processes in the Scale Relativity Theory. Acute Arterial Occlusions as Scale Transitions.
Entropy (Basel)
; 23(4)2021 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33918896
9.
The Role of Information in Managing Interactions from a Multifractal Perspective.
Entropy (Basel)
; 23(2)2021 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33530405
10.
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Hum Genet
; 137(11-12): 921-939, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30450527
11.
Simulated and measured piezoelectric energy harvesting of dynamic load in tires.
Heliyon
; 10(7): e29043, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38601550
12.
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Genes (Basel)
; 14(2)2023 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833393
13.
Combined flow cytometry natural killer immunophenotyping and KIR/HLA-C genotyping reveal remarkable differences in acute myeloid leukemia patients, but suggest an overall impairment of the natural killer response.
Front Med (Lausanne)
; 10: 1148748, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36960339
14.
Association between Eating Patterns and Quality of Life in Patients with Familial Hypercholesterolemia.
Nutrients
; 15(16)2023 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37630856
15.
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.
Orphanet J Rare Dis
; 18(1): 267, 2023 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667299
16.
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
PLoS Genet
; 5(11): e1000747, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19956691
17.
High magnetoelectric coupling of Metglas and P(VDF-TrFE) laminates.
Sci Rep
; 12(1): 5233, 2022 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35347177
18.
Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype-Phenotype Correlation.
Genes (Basel)
; 13(11)2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360320
19.
Eating Habits in Patients with Familial Hypercholesterolemia from North-Eastern Romania.
Nutrients
; 14(15)2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35956302
20.
Genetic Polymorphisms in a Familial Hypercholesterolemia Population from North-Eastern Europe.
J Pers Med
; 12(3)2022 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35330428