Works matching DE "MEDICAL genetics"
Results: 5000
The circular RNA circbabo(5,6,7,8S) regulates lipid metabolism and neuronal integrity via TGF-β/ROS/JNK/SREBP signaling axis in Drosophila.
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- BMC Biology, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12915-025-02175-1
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- Article
Malignant pheochromocytoma associated with pulmonary hypertension.
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- 2025
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- Publication type:
- Case Study
Histone H3 lysine 9 tri-methylation is associated with pterygium.
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- BMC Ophthalmology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12886-025-03939-7
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- Article
Role of epigenetic regulation in diminished ovarian reserve.
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- Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 2, p. 389, doi. 10.1007/s10815-024-03301-8
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- Article
Dissecting tumor cell programs through group biology estimation in clinical single-cell transcriptomics.
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- Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57377-6
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- Article
Understanding the clinical utility of stillbirth investigations: a scoping review.
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- BMC Pregnancy & Childbirth, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12884-025-07345-1
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- Publication type:
- Article
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
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- NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00480-w
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- Article
Detection and characterization of bovine coronavirus and rotavirus in calves in Ethiopia.
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- BMC Veterinary Research, 2025, v. 21, n. 1, p. 1, doi. 10.1186/s12917-025-04563-9
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- Publication type:
- Article
A novel Kayvirus species phage RuSa1 removes biofilm and lyses multiple clinical strains of methicillin resistant Staphylococcus aureus.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-92032-6
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- Article
Demographic Features of Phenylketonuria (PKU) Patients, Sharkia Governorate, Egypt.
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- Zagazig University Medical Journal, 2025, v. 31, p. 214, doi. 10.21608/zumj.2024.282204.3325
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- Publication type:
- Article
Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1 : An Italian Cohort Study.
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- Genes, 2025, v. 16, n. 2, p. 227, doi. 10.3390/genes16020227
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- Publication type:
- Article
Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.
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- Journal of Clinical Medicine, 2025, v. 14, n. 4, p. 1113, doi. 10.3390/jcm14041113
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- Publication type:
- Article
Genetic polymorphisms of Plasmodium vivax transmission-blocking vaccine candidates Pvs48/45 and Pvs47 in Thailand.
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- Malaria Journal, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12936-025-05305-w
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- Publication type:
- Article
Irradiation-responsive PRDM10-DT modulates the angiogenic response in human NSCLC cells in an SP1-dependent manner via the miR-663a/TGF-β1 axis.
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- Journal of Translational Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12967-025-06273-0
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- Publication type:
- Article
Single-Cell Analysis of Sex and Gender Differences in the Human Brain During Development and Disease.
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- Cellular & Molecular Neurobiology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10571-025-01536-2
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- Publication type:
- Article
Cancer prevention: past challenges and future directions.
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- Genes & Environment, 2025, v. 47, n. 1, p. 1, doi. 10.1186/s41021-025-00326-y
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- Publication type:
- Article
Whole exome sequencing-based testing of adult epilepsy in a Polish population.
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- Polish Journal of Neurology & Neurosurgery / Neurologia i Neurochirurgia Polska, 2025, v. 59, n. 1, p. 70, doi. 10.5603/pjnns.101922
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- Publication type:
- Article
Genomic analysis of Brucella melitensis isolates recovered from humans in south Tunisia over 35 years between 1988 and 2022.
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- BMC Microbiology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12866-025-03802-1
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- Publication type:
- Article
Eradication of Helicobacter pylori reshapes gut microbiota and facilitates the evolution of antimicrobial resistance through gene transfer and genomic mutations in the gut.
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- BMC Microbiology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12866-025-03823-w
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- Publication type:
- Article
Biological and therapeutic implications of sex hormone-related gene clustering in testicular cancer.
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- Basic & Clinical Andrology, 2025, v. 35, n. 1, p. 1, doi. 10.1186/s12610-025-00254-5
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- Publication type:
- Article
Topic modeling analysis of the Allen Human Brain Atlas.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-91079-9
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- Publication type:
- Article
Effectiveness of Team-Based Learning in teaching Medical Genetics to Medical Undergraduates.
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- Malaysian Journal of Medical Sciences, 2016, v. 23, n. 2, p. 73
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- Publication type:
- Article
A Nested Allele-Specific Multiplex Polymerase Chain Reaction Method for the Detection of DRD2 Polymorphisms.
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- Malaysian Journal of Medical Sciences, 2011, v. 18, n. 4, p. 44
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- Publication type:
- Article
Research on hearing and balance -- current and future developments.
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- Volta Review, 1997, v. 99, n. 5, p. 29
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- Publication type:
- Article
GENETICS AND GENETIC SERVICES (Book).
- Published in:
- 2002
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- Publication type:
- Book Review
THE DETERMINATION OF CHILD HEALTH: AN APPLICATION OF SIBLING AND ADOPTION DATA.
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- Review of Economics & Statistics, 1983, v. 65, n. 2, p. 266, doi. 10.2307/1924492
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- Publication type:
- Article
Literature Review: GENETICS.
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- Current Medical Literature: Stroke Review, 2004, v. 8, n. 1, p. 12
- Publication type:
- Article
She Has Her Mother's Laugh: The Powers, Perversions, and Potential for Heredity: CARL ZIMMER. 672 pages.
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- 2020
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- Publication type:
- Book Review
Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology.
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- 2006
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- Publication type:
- journal article
Coaxing Cells to Lose Heat--and Size.
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- Innovation, 2004, v. 4, n. 2, p. 22
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- Publication type:
- Article
BRCA1 TESTING: SOME ISSUES IN MOVING FROM RESEARCH TO SERVICE.
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- Psycho-Oncology, 1996, v. 5, n. 3, p. 223, doi. 10.1002/(SICI)1099-1611(199609)5:3<223::AID-PON237>3.0.CO;2-X
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- Publication type:
- Article
Association between cystatin C and inflammation in patients with essential hypertension.
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- Clinical & Experimental Nephrology, 2010, v. 14, n. 6, p. 584, doi. 10.1007/s10157-010-0334-8
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- Publication type:
- Article
Overburden of rare ALMS1 deleterious variants in Chinese early‐onset type 2 diabetes with severe insulin resistance.
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- Diabetes/Metabolism Research & Reviews, 2024, v. 40, n. 4, p. 1, doi. 10.1002/dmrr.3788
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- Article
Screening for monogenic subtypes of gestational diabetes in a high prevalence island population – A whole exome sequencing study.
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- Diabetes/Metabolism Research & Reviews, 2022, v. 38, n. 2, p. 1, doi. 10.1002/dmrr.3486
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- Publication type:
- Article
Distinct two different ages associated with clinical profiles of acute onset type 1 diabetes in Chinese patients.
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- 2020
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- Publication type:
- journal article
Pattern of Clinical Genetics Referral Following Perinatal Postmortems.
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- Pediatric & Developmental Pathology, 2012, v. 15, n. 6, p. 478, doi. 10.2350/12-06-1206-OA.1
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- Publication type:
- Article
Diffuse Lung Disease in Infancy: A Proposed Classification Applied to 259 Diagnostic Biopsies.
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- Pediatric & Developmental Pathology, 2009, v. 12, n. 6, p. 421, doi. 10.2350/08-11-0559.1
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- Publication type:
- Article
Expanding the Clinical Spectrum of Frasier Syndrome.
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 2, p. 122, doi. 10.2350/07-01-0209.1
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- Publication type:
- Article
Evaluation of a Protocol for Postmortem Examination of Stillbirths and Neonatal Deaths with Congenital Anomalies Perinatal Deaths with Birth Defects.
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- Pediatric & Developmental Pathology, 2004, v. 7, n. 4, p. 335, doi. 10.1007/s10024-001-0211-2
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- Publication type:
- Article
1st European Conference on Paget’s Disease of Bone.
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- Calcified Tissue International, 2004, v. 75, n. 3, p. 263, doi. 10.1007/s00223-004-5006-9
- Publication type:
- Article
International Symposium on Paget’s Disease Programme.
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- Calcified Tissue International, 2003, v. 72, n. 6, p. 751, doi. 10.1007/s00223-003-5005-2
- Publication type:
- Article
Comprehensive insights and In silico analysis into the emerging role of LincRNAs in lung diseases pathogenesis; a step toward ncRNA precision.
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- Functional & Integrative Genomics, 2025, v. 25, n. 1, p. 1, doi. 10.1007/s10142-025-01540-1
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- Publication type:
- Article
Dissecting complex phenotypes using the genomics of twins.
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- Functional & Integrative Genomics, 2010, v. 10, n. 3, p. 321, doi. 10.1007/s10142-010-0160-9
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- Publication type:
- Article
Sex-dependent gene regulatory networks of the heart rhythm.
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- Functional & Integrative Genomics, 2010, v. 10, n. 1, p. 73, doi. 10.1007/s10142-009-0137-8
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- Publication type:
- Article
Small molecules under development for psoriasis: on the road to the individualized therapies.
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- Archives of Dermatological Research, 2020, v. 312, n. 9, p. 611, doi. 10.1007/s00403-020-02056-3
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- Publication type:
- Article
Genetic abnormalities and clinical classification of epidermolysis bullosa.
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- Archives of Dermatological Research, 2003, v. 295, p. S29, doi. 10.1007/s00403-002-0369-0
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- Publication type:
- Article
Association between catechol-O-methyltransferase polymorphism and vitiligo.
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- Archives of Dermatological Research, 2002, v. 294, n. 3, p. 143, doi. 10.1007/s00403-002-0295-1
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- Publication type:
- Article
Detection and molecular epidemiology of canine parvovirus and identification of highly pathogenic CPV-2c isolates from Shandong, China.
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- Virus Genes, 2025, v. 61, n. 1, p. 97, doi. 10.1007/s11262-024-02125-z
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- Publication type:
- Article
The H5N1-NS1 protein affects the host cell cycle and apoptosis through interaction with the host lncRNA PIK3CD-AS2.
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- Virus Genes, 2025, v. 61, n. 1, p. 38, doi. 10.1007/s11262-024-02118-y
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- Publication type:
- Article
Multifactorial Etiology of Recurrent Miscarriage and Its Scientific and Clinical Implications.
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- Gynecologic & Obstetric Investigation, 2008, v. 66, n. 4, p. 257, doi. 10.1159/000149575
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- Publication type:
- Article