Works matching DE "GENETIC disorders"
Results: 5000
Oral contraceptive pills and inherited thrombophilia in a young woman with deep venous thrombosis.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Alkaptonuria in a 5-year-old boy in Iraq.
- Published in:
- 2008
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- Publication type:
- Case Study
O SIGNIFICADO DE UMA ORGANIZAÇÃO DE APOIO AOS PORTADORES E FAMILIARES DE FIBROSE CÍSTICA NA PERSPECTIVA DAS FAMÍLIAS.
- Published in:
- Texto & Contexto Enfermagem, 2011, v. 20, n. 1, p. 127, doi. 10.1590/S0104-07072011000100015
- Publication type:
- Article
Genetic Testing in Gastrointestinal Cancers: A Case-Based Approach.
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- Oncology (08909091), 2012, v. 26, n. 5, p. 433
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- Publication type:
- Article
Interpretation of Genome-Wide Association Study Results.
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- Oncology (08909091), 2010, v. 24, n. 7, p. 643
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- Publication type:
- Article
Management of a Patient With Borderline Resectable Pancreatic Cancer.
- Published in:
- 2008
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- Publication type:
- Case Study
The Greco Article Reviewed.
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- Oncology (08909091), 2007, v. 21, p. 39
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- Publication type:
- Article
Caring for Patients at Risk for Hereditary Colorectal Cancer.
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- Oncology (08909091), 2007, v. 21, p. 29
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- Publication type:
- Article
ASH Highlights in Neutropenia.
- Published in:
- 2006
- Publication type:
- Abstract
Non-BRCA Hereditary Breast Cancer Linked to New Cancers.
- Published in:
- Oncology (08909091), 2006, v. 20, n. 3, p. 308
- Publication type:
- Article
The Jeter/Kohlmann/Gruber Article Reviewed.
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- Oncology (08909091), 2006, v. 20, n. 3, p. 286
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- Publication type:
- Article
The Jeter/Kohlmann/Gruber Article Reviewed.
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- Oncology (08909091), 2006, v. 20, n. 3, p. 285
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- Publication type:
- Article
Population prevalence rates of birth defects: a data management and epidemiological perspective.
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- Health Information Management Journal, 2005, v. 34, n. 3, p. 94
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- Publication type:
- Article
Potential Benefits of Using Exercise as a Treatment Strategy for Duchenne Muscular Dystrophy (DMD).
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- Professionalization of Exercise Physiology, 2022, v. 25, n. 4, p. 1
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- Publication type:
- Article
Molecular basis of telomere dysfunction in human genetic diseases.
- Published in:
- Nature Structural & Molecular Biology, 2015, v. 22, n. 11, p. 867, doi. 10.1038/nsmb.3093
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- Publication type:
- Article
Conformational changes required for H<sup>+</sup>/Cl<sup>−</sup> exchange mediated by a CLC transporter.
- Published in:
- Nature Structural & Molecular Biology, 2014, v. 21, n. 5, p. 456, doi. 10.1038/nsmb.2814
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- Publication type:
- Article
Structural basis of fibrillar collagen trimerization and related genetic disorders.
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- Nature Structural & Molecular Biology, 2012, v. 19, n. 10, p. 1031, doi. 10.1038/nsmb.2389
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- Publication type:
- Article
Regulation of Rev1 by the Fanconi anemia core complex.
- Published in:
- Nature Structural & Molecular Biology, 2012, v. 19, n. 2, p. 164, doi. 10.1038/nsmb.2222
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- Publication type:
- Article
Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs.
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- Nature Structural & Molecular Biology, 2011, v. 18, n. 1, p. 85, doi. 10.1038/nsmb.1958
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- Publication type:
- Article
Research highlights.
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- Nature Structural & Molecular Biology, 2008, v. 15, n. 7, p. 699, doi. 10.1038/nsmb0708-699
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- Publication type:
- Article
CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.
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- Nature Structural & Molecular Biology, 2007, v. 14, n. 8, p. 738, doi. 10.1038/nsmb1278
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- Publication type:
- Article
Role for BLM in replication-fork restart and suppression of origin firing after replicative stress.
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- Nature Structural & Molecular Biology, 2007, v. 14, n. 7, p. 677, doi. 10.1038/nsmb1267
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- Publication type:
- Article
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.
- Published in:
- Nature Structural & Molecular Biology, 2007, v. 14, n. 6, p. 564, doi. 10.1038/nsmb1252
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- Publication type:
- Article
The vertebrate Hef ortholog is a component of the Fanconi anemia tumor-suppressor pathway.
- Published in:
- Nature Structural & Molecular Biology, 2005, v. 12, n. 9, p. 763, doi. 10.1038/nsmb981
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- Publication type:
- Article
Toward a unified theory for repeat expansions.
- Published in:
- Nature Structural & Molecular Biology, 2005, v. 12, n. 8, p. 635, doi. 10.1038/nsmb0805-635
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- Publication type:
- Article
Arrest of CFTR?F508 folding.
- Published in:
- Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 2, doi. 10.1038/nsmb0105-2
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- Publication type:
- Article
Side chain and backbone contributions of Phe508 to CFTR folding.
- Published in:
- Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 10, doi. 10.1038/nsmb881
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- Publication type:
- Article
Genetic Testing, Birth, and the Quest for Health.
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- Science, Technology & Human Values, 2014, v. 39, n. 3, p. 374, doi. 10.1177/0162243913509413
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- Publication type:
- Article
Beyond the Geneticization Thesis: The Political Economy of PGD/PGS in Spain.
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- Science, Technology & Human Values, 2012, v. 37, n. 3, p. 235, doi. 10.1177/0162243911411195
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- Publication type:
- Article
Rebirthing the Clinic: The Interaction of Clinical Judgment and Genetic Technology in the Production of Medical Science.
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- Science, Technology & Human Values, 2006, v. 31, n. 5, p. 599, doi. 10.1177/0162243906289613
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- Publication type:
- Article
Vaginoplasty and the role of autologous buccal mucosa: Buccal mucosa is an 'excellent graft alternative' for simple and complex repairs.
- Published in:
- Urology Times, 2017, v. 45, n. 10, p. 22
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- Publication type:
- Article
Lipid metabolism linked to pediatric stone formation.
- Published in:
- Urology Times, 2017, v. 45, n. 4, p. 12
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- Publication type:
- Article
Product Preview.
- Published in:
- 2014
- Publication type:
- Product Review
Genetics playing larger role in male infertility.
- Published in:
- Urology Times, 2006, v. 34, n. 6, p. 21
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- Publication type:
- Article
Hereditary form of RCC is best treated aggressively.
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- Urology Times, 2005, v. 33, n. 7, p. 5
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- Publication type:
- Article
Genetic, molecular anomalies determines RCC therapy.
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- Urology Times, 2005, v. 33, n. 6, p. 11
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- Publication type:
- Article
Urologists' approach to male infertility is evolving.
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- Urology Times, 2003, v. 31, n. 7, p. 14
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- Publication type:
- Article
Graphical and Computationally Intensive Techniques for Presenting and Disseminating Information About the Genetics of Disease: Possibilities, Limitations, and Additions.
- Published in:
- Science Communication, 2011, v. 33, n. 4, p. 415, doi. 10.1177/1075547011401631
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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
Where are we going with preimplantation genetic diagnosis?
- Published in:
- 2007
- By:
- Publication type:
- Editorial
Pigmented villonodular synovitis: Four pediatric cases and brief review of literature.
- Published in:
- Journal of Postgraduate Medicine, 2019, v. 65, n. 4, p. 233, doi. 10.4103/jpgm.JPGM_305_19
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- Publication type:
- Article
Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: Unusual genetic mutation leading to unusual manifestation?
- Published in:
- Journal of Postgraduate Medicine, 2012, v. 58, n. 4, p. 294, doi. 10.4103/0022-3859.105451
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- Publication type:
- Article
Familial hypercholesterolemia with coarctation of aorta.
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- Journal of Postgraduate Medicine, 2007, v. 53, n. 3, p. 185, doi. 10.4103/0022-3859.33863
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- Publication type:
- Article
Psoriatic arthritis as a distinct disease entity.
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- Journal of Postgraduate Medicine, 2007, v. 53, n. 1, p. 63, doi. 10.4103/0022-3859.30334
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- Publication type:
- Article
Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia.
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- Journal of Postgraduate Medicine, 2004, v. 50, n. 4, p. 270
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- Publication type:
- Article
Juvenile hyaline fibromatosis.
- Published in:
- Journal of Postgraduate Medicine, 2004, v. 50, n. 2, p. 125
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- Publication type:
- Article
Suicidal Behaviors in Surviving Monozygotic and Dizygotic Co-Twins: Is the Nature of the Co-Twin's Cause of Death a Factor?
- Published in:
- Suicide & Life-Threatening Behavior, 2009, v. 39, n. 6, p. 569, doi. 10.1521/suli.2009.39.6.569
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- Publication type:
- Article
CONCLUSIONS.
- Published in:
- Monographs of the Society for Research in Child Development, 1948, v. 13, n. 2, p. 25
- Publication type:
- Article
SUMMARY.
- Published in:
- Monographs of the Society for Research in Child Development, 1948, v. 13, n. 2, p. 25
- Publication type:
- Article
COMMENT.
- Published in:
- Monographs of the Society for Research in Child Development, 1948, v. 13, n. 2, p. 18
- Publication type:
- Article