Works matching DE "GENETIC disorders"
Results: 5000
Vocal Cord Paralysis in Association with CHARGE Syndrome: A Case Report.
- Published in:
- Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 5, doi. 10.7860/JCDR/2025/77368.20660
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- Publication type:
- Article
Ketogenic Diet for Seizure Management in Glucose Transporter Type 1 Deficiency Syndrome: A Case Report.
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- Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 1, doi. 10.7860/JCDR/2025/76543.20622
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- Publication type:
- Article
A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma.
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- Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 1, doi. 10.7860/JCDR/2025/70068.20571
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- Publication type:
- Article
Perioperative Management of the Patient With Chromosome 6p Duplication: A Case Report And a Narrative Review of Literature.
- Published in:
- 2025
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- Publication type:
- Case Study
Impact of vaccination policy on changes in rubella virus antibody in Japanese pregnant women.
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- Journal of Public Health: From Theory to Practice (2198-1833), 2022, v. 30, n. 4, p. 823, doi. 10.1007/s10389-020-01352-6
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- Publication type:
- Article
Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters.
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1536000
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- Publication type:
- Article
Editorial: What's new in endocrinology? volume II.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1561375
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- Publication type:
- Article
Treatment of the Patient with Brugada Syndrome – a Case Report.
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- Medicina Fluminensis, 2025, v. 61, n. 1, p. 105, doi. 10.21860/medflum2025_323589
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- Publication type:
- Article
MC-LR induces and exacerbates Colitis in mice through the JAK1/STAT3 pathway.
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- Journal of Toxicology & Environmental Health: Part A, 2025, v. 88, n. 9, p. 373, doi. 10.1080/15287394.2024.2443227
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- Publication type:
- Article
Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03597-4
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- Publication type:
- Article
Sudden Cardiac Death: The Role of Molecular Autopsy with Next-Generation Sequencing.
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- Diagnostics (2075-4418), 2025, v. 15, n. 4, p. 460, doi. 10.3390/diagnostics15040460
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- Publication type:
- Article
Orofacial Lymphedema in Phelan–McDermid Syndrome: A Case of Hemifacial Involvement and a Scoping Review.
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- Applied Sciences (2076-3417), 2025, v. 15, n. 4, p. 2195, doi. 10.3390/app15042195
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- Publication type:
- Article
Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7.
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- Genes, 2025, v. 16, n. 2, p. 212, doi. 10.3390/genes16020212
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- Publication type:
- Article
Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre Experience.
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- Genes, 2025, v. 16, n. 2, p. 196, doi. 10.3390/genes16020196
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- Publication type:
- Article
Integrating Machine Learning-Based Approaches into the Design of ASO Therapies.
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- Genes, 2025, v. 16, n. 2, p. 185, doi. 10.3390/genes16020185
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- Publication type:
- Article
Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review.
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- Genes, 2025, v. 16, n. 2, p. 129, doi. 10.3390/genes16020129
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- Publication type:
- Article
Sickle Cell Anemia and Inflammation: A Review of Stones and Landmarks Paving the Road in the Last 25 Years.
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- Hematology Reports, 2025, v. 17, n. 1, p. 2, doi. 10.3390/hematolrep17010002
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- Publication type:
- Article
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
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- NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00474-8
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- Publication type:
- Article
Are Mitochondria a Potential Target for Treating β-Thalassemia?
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- Journal of Clinical Medicine, 2025, v. 14, n. 4, p. 1095, doi. 10.3390/jcm14041095
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- Publication type:
- Article
Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients.
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- Annals of Hematology, 2025, v. 104, n. 1, p. 163, doi. 10.1007/s00277-024-06158-0
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- Publication type:
- Article
The diagnosis of SARS-CoV-2-related myocarditis requires confirmation by endomyocardial biopsy or autopsy.
- Published in:
- 2025
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- Publication type:
- Letter
Satisfaction and results of the subareolar incision as treatment for gynecomastia in adolescents: experience of two centers.
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- Medical & Surgical Pediatrics / Pediatria Medica e Chirurgica, 2024, v. 46, n. 2, p. 1, doi. 10.4081/pmc.2024.336
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- Publication type:
- Article
Refractive Alterations in Marfan Syndrome: A Narrative Review.
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- Medicina (1010660X), 2025, v. 61, n. 2, p. 250, doi. 10.3390/medicina61020250
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- Publication type:
- Article
High-Frequency and Ultra-High-Frequency Ultrasound in Dermatologic Diseases and Aesthetic Medicine.
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- Medicina (1010660X), 2025, v. 61, n. 2, p. 220, doi. 10.3390/medicina61020220
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- Publication type:
- Article
A Genetic Test to Identify People at High Risk of Heart Failure.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1782, doi. 10.3390/ijms26041782
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- Publication type:
- Article
Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1744, doi. 10.3390/ijms26041744
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- Publication type:
- Article
Seltene osteologische Erkrankungen in der rheumatologischen Sprechstunde: Hypophosphatasie und Phosphatverlustsyndrome.
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- Zeitschrift für Rheumatologie, 2025, v. 84, n. 2, p. 128, doi. 10.1007/s00393-025-01616-0
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- Publication type:
- Article
Identification of nonsense-mediated decay inhibitors that alter the tumor immune landscape.
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- eLife, 2025, p. 1
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- Publication type:
- Article
The Influence of Physical Exercise, Ketogenic Diet, and Time-Restricted Eating on De Novo Lipogenesis: A Narrative Review.
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- Nutrients, 2025, v. 17, n. 4, p. 663, doi. 10.3390/nu17040663
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- Publication type:
- Article
A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.
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- Nutrients, 2025, v. 17, n. 4, p. 659, doi. 10.3390/nu17040659
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- Publication type:
- Article
Familial Mediterranean fever research activity in the Arab world: the need for regional and international collaborations.
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- Eastern Mediterranean Health Journal, 2021, v. 27, n. 10, p. 984, doi. 10.26719/emhj.21.036
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- Publication type:
- Article
Associations between red reflex abnormality, consanguinity and intensive care hospitalization of newborns in Turkey.
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- Eastern Mediterranean Health Journal, 2018, v. 24, n. 7, p. 631, doi. 10.26719/2018.24.7.631
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- Publication type:
- Article
WHO events addressing public health priorities.
- Published in:
- 2017
- Publication type:
- Proceeding
Oral contraceptive pills and inherited thrombophilia in a young woman with deep venous thrombosis.
- Published in:
- 2009
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- Publication type:
- Case Study
Alkaptonuria in a 5-year-old boy in Iraq.
- Published in:
- 2008
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- Publication type:
- Case Study
Exercise for Individuals with Marfan Syndrome.
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- Cardiopulmonary Physical Therapy Journal (American Physical Therapy Association, Cardiopulmonary Section), 2006, v. 17, n. 3, p. 110, doi. 10.1097/01823246-200617030-00003
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- Publication type:
- Article
Editorial.
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- Cardiopulmonary Physical Therapy Journal (American Physical Therapy Association, Cardiopulmonary Section), 2006, v. 17, n. 3, p. 102, doi. 10.1097/01823246-200617030-00001
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- Publication type:
- Article
Incorporation of Biomedical Knowledge in Sickle Cell Disease (SCD) Representations of a Guadeloupe Schooled Population (FWI): Marie-Galante Profile.
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- Caribbean Quarterly, 2009, v. 55, n. 3, p. 53
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- Publication type:
- Article
PREVALENCE OF THALASSAEMIA IN HOSPITAL UNIVERSITI SAINS MALAYSIA AND STRATEGY FOR PREVENTION.
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- Malaysian Journal of Medical Sciences, 2007, v. 14, p. 268
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- Publication type:
- Article
ARTERIAL STIFFNESS IN YOUNG NORMOTENSIVES WITH AND WITHOUT PARENTAL HISTORY OF HYPERTENSION.
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- Malaysian Journal of Medical Sciences, 2007, v. 14, p. 235
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- Publication type:
- Article
EVALUATION OF GENOTOXICITY THROUGH MICRONUCLEI TEST AND COMET ASSAY IN CAR MECHANICS.
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- Malaysian Journal of Medical Sciences, 2007, v. 14, p. 198
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- Publication type:
- Article
Family Relationships Associated With Communication and Testing for Inherited Cardiac Conditions.
- Published in:
- Western Journal of Nursing Research, 2019, v. 41, n. 11, p. 1576, doi. 10.1177/0193945918817039
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- Publication type:
- Article
Cardiovascular MR imaging findings of total anomalous pulmonary venous connection to the portal vein in a patient with right atrial isomerism.
- Published in:
- 2012
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- Publication type:
- Report
Leitlinie zur Prävention und Früherkennung von Brust- und Eierstockkrebs bei Hochrisikopatientinnen, insbesondere bei Frauen aus HBOC (Hereditary Breast and Ovarian Cancer) Familien.
- Published in:
- 2012
- By:
- Publication type:
- Report
Molecular epidemiology of Pseudomonas aeruginosa in cystic fibrosis patients from Southeast Austria.
- Published in:
- 2012
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- Publication type:
- Report
Genetic factors in assisted reproduction.
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- Wiener Klinische Wochenschrift, 2003, v. 115, n. 23, p. 805, doi. 10.1007/BF03041040
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- Publication type:
- Article
Hereditary hearing loss.
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- Volta Review, 1997, v. 99, n. 5, p. 63
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- Publication type:
- Article
IMPLANT REHABILITATION FOR A PATIENT WITH HALLERMAN-STREIFF SYNDROME: A CASE REPORT.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Genetic Disorders: An Integrated Curriculum Project.
- Published in:
- Technology Teacher, 2001, v. 60, n. 6, p. 10
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- Publication type:
- Article
Efanesoctocog alfa in hemophilia A: a profile of its use.
- Published in:
- Drugs & Therapy Perspectives, 2024, v. 40, n. 1, p. 9, doi. 10.1007/s40267-024-01048-x
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- Publication type:
- Article