Found: 136
Select item for more details and to access through your institution.
Low‐grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis‐like syndrome.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32976
- By:
- Publication type:
- Article
SS-31 treatment ameliorates cardiac mitochondrial morphology and defective mitophagy in a murine model of Barth syndrome.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-64368-y
- By:
- Publication type:
- Article
Factors Affecting the Land Investment Decisions in the Old Members of the European Union: A Systematic Literature Review.
- Published in:
- Land (2012), 2024, v. 13, n. 4, p. 527, doi. 10.3390/land13040527
- By:
- Publication type:
- Article
High OXPHOS efficiency in RA-FUdr-differentiated SH-SY5Y cells: involvement of cAMP signalling and respiratory supercomplexes.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-57613-x
- By:
- Publication type:
- Article
High‐commitment HRM practices during the financial crisis in Portugal: Employees' and HR perspectives.
- Published in:
- European Management Review, 2024, v. 21, n. 1, p. 204, doi. 10.1111/emre.12574
- By:
- Publication type:
- Article
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1198821
- By:
- Publication type:
- Article
What is the narrative for practice? A review of recommendations on feedback and a guide to writing impactful practical implications.
- Published in:
- Applied Psychology: An International Review, 2023, v. 72, n. 4, p. 1624, doi. 10.1111/apps.12450
- By:
- Publication type:
- Article
The Political Reputation of Students in Upper Secondary School: Consequences for Their Collective Political Activities Four Years Later.
- Published in:
- Political Psychology, 2023, v. 44, n. 4, p. 693, doi. 10.1111/pops.12879
- By:
- Publication type:
- Article
The Political Reputation of Students in Upper Secondary School: Consequences for Their Collective Political Activities Four Years Later.
- Published in:
- Political Psychology, 2023, v. 44, n. 4, p. 693, doi. 10.1111/pops.12879
- By:
- Publication type:
- Article
Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1198821
- By:
- Publication type:
- Article
Prenatal testing for imprinting disorders: A laboratory perspective.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 8, p. 973, doi. 10.1002/pd.6398
- By:
- Publication type:
- Article
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
- Published in:
- Cancers, 2023, v. 15, n. 3, p. 773, doi. 10.3390/cancers15030773
- By:
- Publication type:
- Article
Relative deprivation, national GDP and right‐wing populism: A multilevel, multinational study.
- Published in:
- Journal of Community & Applied Social Psychology, 2023, v. 33, n. 1, p. 32, doi. 10.1002/casp.2636
- By:
- Publication type:
- Article
Masculinity, Perceived Vulnerability to COVID-19, and Adoption of Protective Behaviors.
- Published in:
- Sexuality & Culture, 2022, v. 26, n. 6, p. 2171, doi. 10.1007/s12119-022-09991-5
- By:
- Publication type:
- Article
Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-24231-4
- By:
- Publication type:
- Article
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14491, doi. 10.3390/ijms232214491
- By:
- Publication type:
- Article
Conversaciones entre la práctica psicológica y jurídica de la Adopción: desafíos en la escucha e intervención.
- Published in:
- Derecho y Ciencias Sociales, 2022, n. 28, p. 1, doi. 10.24215/18522971e113
- By:
- Publication type:
- Article
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 4, p. 314, doi. 10.1111/cge.14193
- By:
- Publication type:
- Article
Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.975511
- By:
- Publication type:
- Article
Characteristics and Consequences of Having a Political Reputation in Class.
- Published in:
- Political Psychology, 2022, v. 43, n. 4, p. 635, doi. 10.1111/pops.12784
- By:
- Publication type:
- Article
Congenital hypothyroidism after newborn screening program reorganization in the Apulia region.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01328-0
- By:
- Publication type:
- Article
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
- Published in:
- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01259-x
- By:
- Publication type:
- Article
SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
- Published in:
- Brain Sciences (2076-3425), 2022, v. 12, n. 1, p. 18, doi. 10.3390/brainsci12010018
- By:
- Publication type:
- Article
Genes for RNA-binding proteins involved in neuralspecific functions and diseases are downregulated in Rubinstein-Taybi iNeurons.
- Published in:
- Neural Regeneration Research, 2022, v. 17, n. 1, p. 5, doi. 10.4103/1673-5374.314286
- By:
- Publication type:
- Article
Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1 -Related and Rubinstein–Taybi Intellectual Disability Syndromes.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.745684
- By:
- Publication type:
- Article
What changes with coaching? Investigating within‐person changes in reflection, the predicting role of implicit person theory and the effects on perceived utility of coaching.
- Published in:
- International Journal of Training & Development, 2021, v. 25, n. 3, p. 316, doi. 10.1111/ijtd.12235
- By:
- Publication type:
- Article
The Lasting Effects of the COVID‐19 Pandemic on Support for Anti‐Democratic Political Systems: A Six‐Month Longitudinal Study.
- Published in:
- Social Science Quarterly (Wiley-Blackwell), 2021, v. 102, n. 5, p. 2285, doi. 10.1111/ssqu.12958
- By:
- Publication type:
- Article
Coping with the COVID‐19 pandemic through institutional trust: Rally effects, compensatory control, and emotions.
- Published in:
- Social Science Quarterly (Wiley-Blackwell), 2021, v. 102, n. 5, p. 2360, doi. 10.1111/ssqu.13002
- By:
- Publication type:
- Article
Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders.
- Published in:
- 2021
- By:
- Publication type:
- Editorial
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5777, doi. 10.3390/ijms22115777
- By:
- Publication type:
- Article
Human capital development practices and career success: The moderating role of country development and income inequality.
- Published in:
- Journal of Organizational Behavior (John Wiley & Sons, Inc.), 2021, v. 42, n. 4, p. 429, doi. 10.1002/job.2506
- By:
- Publication type:
- Article
How Clusters Create Shared Value in Rural Areas: An Examination of Six Case Studies.
- Published in:
- Sustainability (2071-1050), 2021, v. 13, n. 8, p. 4578, doi. 10.3390/su13084578
- By:
- Publication type:
- Article
An Experimental Field Study on the Effects of Coaching: The Mediating Role of Psychological Capital.
- Published in:
- Applied Psychology: An International Review, 2021, v. 70, n. 2, p. 459, doi. 10.1111/apps.12260
- By:
- Publication type:
- Article
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 588, doi. 10.3390/genes12040588
- By:
- Publication type:
- Article
Constituyendo transicionalidad y devenir: virtualización del espacio educativo, interrogantes y estrategias desde un pensamiento creador.
- Published in:
- TE & ET: Revista Iberoamericana de Tecnología en Educación y Educación en Tecnología, 2021, n. 28, p. 352, doi. 10.24215/18509959.28.e44
- By:
- Publication type:
- Article
A Path Model of the Intention to Adopt Variable Rate Irrigation in Northeast Italy.
- Published in:
- Sustainability (2071-1050), 2021, v. 13, n. 4, p. 1879, doi. 10.3390/su13041879
- By:
- Publication type:
- Article
The Effect of Age on Daily Positive Emotions and Work Behaviors.
- Published in:
- Work, Aging & Retirement, 2021, v. 7, n. 1, p. 9, doi. 10.1093/workar/waz026
- By:
- Publication type:
- Article
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2982, doi. 10.1002/ajmg.a.61874
- By:
- Publication type:
- Article
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8487, doi. 10.3390/ijms21228487
- By:
- Publication type:
- Article
A Democratic Emergency After a Health Emergency? Exposure to COVID‐19, Perceived Economic Threat and Support for Anti‐Democratic Political Systems.
- Published in:
- Social Science Quarterly (Wiley-Blackwell), 2020, v. 101, n. 6, p. 2193, doi. 10.1111/ssqu.12865
- By:
- Publication type:
- Article
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13148-020-00925-2
- By:
- Publication type:
- Article
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation.
- Published in:
- Molecular Neurobiology, 2020, v. 57, n. 9, p. 3685, doi. 10.1007/s12035-020-01983-6
- By:
- Publication type:
- Article
Careers in context: An international study of career goals as mesostructure between societies' career‐related human potential and proactive career behaviour.
- Published in:
- Human Resource Management Journal, 2020, v. 30, n. 3, p. 365, doi. 10.1111/1748-8583.12247
- By:
- Publication type:
- Article
Three Roads to Populism? An Italian Field Study on the 2019 European Election.
- Published in:
- Social Science Quarterly (Wiley-Blackwell), 2020, v. 101, n. 4, p. 1222, doi. 10.1111/ssqu.12834
- By:
- Publication type:
- Article
PBMC of Multiple Sclerosis Patients Show Deregulation of OPA1 Processing Associated with Increased ROS and PHB2 Protein Levels.
- Published in:
- Biomedicines, 2020, v. 8, n. 4, p. 85, doi. 10.3390/biomedicines8040085
- By:
- Publication type:
- Article
DNA Methylation in the Diagnosis of Monogenic Diseases.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 355, doi. 10.3390/genes11040355
- By:
- Publication type:
- Article
Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 192, doi. 10.3390/ijms21010192
- By:
- Publication type:
- Article
Actual Threat, Perceived Threat, and Authoritarianism: An Experimental Study.
- Published in:
- Spanish Journal of Psychology, 2020, v. 23, p. 1, doi. 10.1017/SJP.2020.7
- By:
- Publication type:
- Article