Works matching DE "GENETIC disorder diagnosis"
Results: 2817
Preimplantation diagnosis of genetic diseases.
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- Journal of Postgraduate Medicine, 2010, v. 56, n. 4, p. 317
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- Article
Genetic testing and human autonomy.
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- South African Journal of Philosophy, 2004, v. 23, n. 1, p. 69, doi. 10.4314/sajpem.v23i1.31385
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- Publication type:
- Article
Factors affecting mothers’ knowledge of genetic screening.
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- Australian & New Zealand Journal of Obstetrics & Gynaecology, 2004, v. 44, n. 1, p. 30, doi. 10.1111/j.1479-828X.2004.00171.x
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- Article
Factoring Them In: Shining the Spotlight on Women and Girls with Congenital Bleeding Disorders.
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- Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 608, doi. 10.1089/jwh.2019.8255
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- Publication type:
- Article
A Cross-Sectional Study of Women and Girls with Congenital Bleeding Disorders: The American Thrombosis and Hemostasis Network Cohort.
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- Journal of Women's Health (15409996), 2020, v. 29, n. 5, p. 670, doi. 10.1089/jwh.2019.7930
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- Article
Correlation-based feature selection and classification via regression of segmented chromosomes using geometric features.
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- 2017
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- Publication type:
- journal article
LA IMPORTANCIA DEL DIAGNÓSTICO GENÉTICO PREIMPLANTACIONAL A LA LUZ DE LOS DERECHOS HUMANOS.
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- Revista Jurídica de la Universidad Autonóma de Madrid, 2017, n. 35, p. 267, doi. 10.15366/rjuam2017.35.009
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- Article
Guideline on Dental Management of Heritable Dental Developmental Anomalies.
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- Pediatric Dentistry, 2014, v. 36, n. 6, p. 264
- Publication type:
- Article
Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy.
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- Documenta Ophthalmologica, 2024, v. 148, n. 3, p. 133, doi. 10.1007/s10633-024-09968-9
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- Article
Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.
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- Documenta Ophthalmologica, 2021, v. 143, n. 1, p. 39, doi. 10.1007/s10633-021-09818-y
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- Publication type:
- Article
Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.
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- Documenta Ophthalmologica, 2017, v. 134, n. 2, p. 135, doi. 10.1007/s10633-017-9574-1
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- Article
Intentions for risk-reducing surgery among high-risk women referred for BRCA1/BRCA2 genetic counseling.
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- Psycho-Oncology, 2015, v. 24, n. 1, p. 33, doi. 10.1002/pon.3560
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- Article
Hereditary melanoma and predictive genetic testing: why not?
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- Psycho-Oncology, 2005, v. 14, n. 9, p. 738, doi. 10.1002/pon.901
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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
PSYCHOSOCIAL IMPACT OF TESTING (BY LINKAGE) FOR THE BRCA1 BREAST CANCER GENE: AN INVESTIGATION OF TWO FAMILIES IN THE RESEARCH SETTING.
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- Psycho-Oncology, 1996, v. 5, n. 3, p. 233, doi. 10.1002/(SICI)1099-1611(199609)5:3<233::AID-PON238>3.0.CO;2-T
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- Publication type:
- Article
MALES AT-RISK FOR THE BRCA1-GENE, THE PSYCHOLOGICAL IMPACT.
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- Psycho-Oncology, 1996, v. 5, n. 3, p. 251, doi. 10.1002/(SICI)1099-1611(199609)5:3<251::AID-PON225>3.0.CO;2-6
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- Publication type:
- Article
ACCEPTANCE OF INVITATIONS FOR p53 AND BRCA1 PREDISPOSITION TESTING: FACTORS INFLUENCING POTENTIAL UTILIZATION OF CANCER GENETIC TESTING.
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- Psycho-Oncology, 1996, v. 5, n. 3, p. 241, doi. 10.1002/(SICI)1099-1611(199609)5:3<241::AID-PON235>3.0.CO;2-6
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- Publication type:
- Article
TTR Val142Ile: Bystander Genetic Finding or Diagnosis? Response to Editor.
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- Pediatric Cardiology, 2023, v. 44, n. 2, p. 501, doi. 10.1007/s00246-022-03086-6
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- Article
TTR Val142Ile: Bystander Genetic Finding or Diagnosis?
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- Pediatric Cardiology, 2023, v. 44, n. 2, p. 499, doi. 10.1007/s00246-022-03085-7
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- Publication type:
- Article
Rotational Position of the Aortic Root is Associated with Increased Aortic Dimensions in Marfan and Loeys–Dietz Syndrome.
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- Pediatric Cardiology, 2021, v. 42, n. 5, p. 1157, doi. 10.1007/s00246-021-02594-1
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- Publication type:
- Article
Left Ventricular Non-compaction: Is It Genetic?
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- Pediatric Cardiology, 2015, v. 36, n. 8, p. 1565, doi. 10.1007/s00246-015-1222-5
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- Publication type:
- Article
Systemic and ocular associations in pediatric patients undergoing cataract surgery.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 1, p. 241, doi. 10.1007/s00417-022-05802-7
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- Publication type:
- Article
Yield of genetic evaluation in non-syndromic pediatric moyamoya patients.
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- Child's Nervous System, 2024, v. 40, n. 3, p. 801, doi. 10.1007/s00381-023-06167-w
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- Publication type:
- Article
3-D ultrasound imaging of a prenatally diagnosed Beckwith-Wiedemann syndrome.
- Published in:
- 2011
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- Publication type:
- Case Study
A case of third trimester diagnosis of Cornelia de Lange syndrome.
- Published in:
- 2011
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- Publication type:
- journal article
Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.
- Published in:
- Acta Neuropathologica, 2013, v. 125, n. 2, p. 173, doi. 10.1007/s00401-012-1072-7
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- Publication type:
- Article
Genes and Pulmonary Arterial Hypertension.
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- Respiration, 2007, v. 74, n. 2, p. 123, doi. 10.1159/000098818
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- Publication type:
- Article
Cancer: Staying together on the road to metastasis.
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- Nature, 2014, v. 514, n. 7522, p. 309, doi. 10.1038/514309a
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- Article
Fast genetic sequencing saves newborn lives.
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- Nature, 2014, v. 514, n. 7520, p. 13, doi. 10.1038/514013a
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- Article
Sequencing set to alter clinical landscape.
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- Nature, 2012, v. 482, n. 7385, p. 288, doi. 10.1038/482288a
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- Publication type:
- Article
Human genetics: Genomes on prescription.
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- Nature, 2011, v. 478, n. 7367, p. 22, doi. 10.1038/478022a
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- Article
There will be blood.
- Published in:
- 2011
- Publication type:
- Editorial
A Case of Cribriform-Morular Thyroid Carcinoma Presenting Without Thyroid Nodule.
- Published in:
- JCEM Case Reports, 2024, v. 2, n. 4, p. 1, doi. 10.1210/jcemcr/luae062
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- Publication type:
- Article
A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development.
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- JCEM Case Reports, 2023, v. 1, n. 5, p. 1, doi. 10.1210/jcemcr/luad103
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- Publication type:
- Article
Prenatal genetic diagnosis of monogenic diseases.
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- Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2023, v. 4, n. 1, p. 28, doi. 10.1515/almed-2023-0024
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- Publication type:
- Article
Genetic Testing for Breast and Ovarian Cancer Susceptibility: Evaluating Direct-to-Consumer Marketing -- Atlanta, Denver, Raleigh-Durham, and Seattle, 2003.
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- MMWR: Morbidity & Mortality Weekly Report, 2004, v. 53, n. 27, p. 603
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- Publication type:
- Article
PREVALENCE OF FAMILIAL HYPERCHOLESTEROLEMIA IN ATTICA REGION, GREECE.
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- Health & Research Journal, 2021, v. 7, n. 1, p. 26, doi. 10.12681/healthresj.26096
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- Publication type:
- Article
A rare costovertebral malformation in a Kenyan infant.
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- African Journal of Thoracic & Critcal Care Medicine, 2024, v. 30, n. 1, p. 28, doi. 10.7196/AJTCCM.2024.v30i1.984
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- Publication type:
- Article
Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles.
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- Turkish Journal of Medical Sciences, 2021, v. 51, n. 2, p. 657, doi. 10.3906/sag-2004-298
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- Publication type:
- Article
GENETIC DIAGNOSIS OF THE RUST-RED FLOUR BEETLE TRIBOLIUM CASTANEUM (HERBST) (COLEOPTERA:) AND ITS MORTALITY, ATTRACTION AND REPELLING EFFECT OF SOME VEGETABLE OILS.
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- International Journal of Agricultural & Statistical Sciences, 2021, v. 17, p. 1867
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- Publication type:
- Article
Cohesin pathway makes the necessary arrangements.
- Published in:
- Journal of Cell Biology, 2009, v. 187, n. 4, p. 444, doi. 10.1083/jcb.1874iti1
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- Publication type:
- Article
Observers' Reactions to Genetic Testing: The Role of Hindsight Bias and Judgments of Responsibility.
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- Journal of Applied Social Psychology, 2000, v. 30, n. 8, p. 1670, doi. 10.1111/j.1559-1816.2000.tb02461.x
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- Publication type:
- Article
Clinical application of whole-exome sequencing analysis in childhood epilepsy.
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- Journal of Neurogenetics, 2024, v. 38, n. 4, p. 187, doi. 10.1080/01677063.2024.2434869
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- Publication type:
- Article
Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
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- Scientific Data, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41597-019-0339-4
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- Publication type:
- Article
APPENDIX B: The Last Acceptable Prejudice.
- Published in:
- Human Life Review, 2008, v. 34, n. 4, p. 118
- Publication type:
- Article
Confessions of a "Genetic Outlaw".
- Published in:
- Human Life Review, 2006, v. 32, n. 3/4, p. 139
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- Publication type:
- Article
Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy.
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- Medicina Moderna, 2015, v. 22, n. 1, p. 47
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- Publication type:
- Article
广州地区育龄人群地中海贫血基因分型及筛查漏检误诊的原因分析.
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- Progress in Modern Biomedicine, 2023, v. 23, n. 17, p. 3247, doi. 10.13241/j.cnki.pmb.2023.17.009
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- Publication type:
- Article
26 例中国先天性晶状体异位患者的基因诊断及手术初步效果观察.
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- Progress in Modern Biomedicine, 2022, v. 22, n. 15, p. 2846, doi. 10.13241/j.cnki.pmb.2022.15.009
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- Publication type:
- Article
PipeMAGI: an integrated and validated workflow for analysis of NGS data for clinical diagnostics.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2019, v. 23, n. 15, p. 6753
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- Publication type:
- Article