Detalles de la búsqueda
1.
Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients.
Int J Mol Sci
; 25(5)2024 Feb 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38473809
2.
Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review.
Medicina (Kaunas)
; 60(4)2024 Mar 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38674189
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37293956
4.
The impact of theory of mind, stress and professional experience on empathy in Romanian community nurses-a cross-sectional study.
BMC Nurs
; 22(1): 400, 2023 Oct 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37875900
5.
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency.
J Med Genet
; 58(9): 648-652, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32843487
6.
A randomized controlled trial for overweight and obesity in preschoolers: the More and Less Europe study - an intervention within the STOP project.
BMC Public Health
; 19(1): 945, 2019 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31307412
7.
A comprehensive analysis concerning eating behavior associated with chronic diseases among Romanian community nurses.
Front Public Health
; 12: 1368069, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38577280
8.
Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review.
J Cardiovasc Dev Dis
; 11(2)2024 Jan 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-38392255
9.
Comparison of the ABC and ACMG systems for variant classification.
Eur J Hum Genet
; 2024 May 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38778080
10.
Arterial hypertension in school-aged children in western Romania.
Cardiol Young
; 23(2): 189-96, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22794082
11.
When Mast Cells Run Amok: A Comprehensive Review and Case Study on Severe Neonatal Diffuse Cutaneous Mastocytosis.
Genes (Basel)
; 14(11)2023 Oct 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38002964
12.
Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.
J Glob Health
; 13: 04081, 2023 Jul 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37497751
13.
Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis.
Front Genet
; 13: 870233, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35464845
14.
Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability.
Ital J Pediatr
; 48(1): 207, 2022 Dec 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36585697
15.
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
JAMA Neurol
; 79(12): 1267-1276, 2022 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36315135
16.
Making Childhood Obesity a Priority: A Qualitative Study of Healthcare Professionals' Perspectives on Facilitating Communication and Improving Treatment.
Front Public Health
; 9: 652491, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34336760
17.
Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.
Rom J Morphol Embryol
; 62(2): 563-568, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35024745
18.
Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country.
Front Pediatr
; 9: 612644, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34307243
19.
Antibiotic Resistance Patterns of Uropathogens Causing Urinary Tract Infections in Children with Congenital Anomalies of Kidney and Urinary Tract.
Children (Basel)
; 8(7)2021 Jul 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34356564
20.
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
Sci Rep
; 10(1): 223, 2020 01 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-31937788