Found: 79
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Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.
- Published in:
- Vascular Medicine, 2012, v. 17, n. 5, p. 326, doi. 10.1177/1358863X12453973
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- Publication type:
- Article
Prolonged disorders of consciousness: A response to a "critical evaluation of the new UK guidelines.".
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- Clinical Rehabilitation, 2022, v. 36, n. 9, p. 1267, doi. 10.1177/02692155221099704
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- Publication type:
- Article
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.
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- Neurogenetics, 2014, v. 15, n. 1, p. 23, doi. 10.1007/s10048-013-0378-5
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- Publication type:
- Article
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1640, doi. 10.1038/ejhg.2015.38
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- Publication type:
- Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
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- Publication type:
- Article
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 54, doi. 10.1038/ejhg.2014.51
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- Publication type:
- Article
Public views on participating in newborn screening using genome sequencing.
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- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1248, doi. 10.1038/ejhg.2014.22
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- Article
Primary care role in expanded newborn screening: After the heel prick test.
- Published in:
- 2013
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- Publication type:
- journal article
Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.
- Published in:
- 2013
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- Publication type:
- journal article
Genetics: factor V Leiden.
- Published in:
- 2010
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- Publication type:
- journal article
Genetics: Factor V Leiden.
- Published in:
- Canadian Family Physician / Médecin de Famille Canadien, 2010, v. 56, n. 4, p. 353
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- Publication type:
- Article
Genetics: Preimplantation genetic diagnosis.
- Published in:
- 2010
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- Publication type:
- journal article
Genetics: familial melanoma.
- Published in:
- 2010
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- Publication type:
- journal article
Genetics: schizophrenia.
- Published in:
- 2009
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- Publication type:
- journal article
Genetic education for primary care providers: Improving attitudes, knowledge, and confidence.
- Published in:
- Canadian Family Physician / Médecin de Famille Canadien, 2009, v. 55, n. 12, p. e92
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- Publication type:
- Article
Genetic education for primary care providers: improving attitudes, knowledge, and confidence.
- Published in:
- 2009
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- Publication type:
- journal article
Genetics: Hypertrophic cardiomyopathy.
- Published in:
- 2009
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- Publication type:
- journal article
Genetics: Newborn screening for sickle cell anemia.
- Published in:
- 2009
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- Publication type:
- journal article
Genetics: type 2 diabetes.
- Published in:
- 2009
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- Publication type:
- journal article
Genetics: prostate cancer.
- Published in:
- 2009
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- Publication type:
- journal article
Genetics: Alzheimer disease.
- Published in:
- 2009
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- Publication type:
- journal article
Genetics: newborn screening for MCAD deficiency.
- Published in:
- 2009
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- Publication type:
- journal article
Genetics: Codeine metabolism.
- Published in:
- 2009
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- Publication type:
- journal article
Genetics: hereditary hemochromatosis.
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- 2009
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- Publication type:
- journal article
Hereditary breast and ovarian cancers.
- Published in:
- 2008
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- Publication type:
- journal article
Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 498, doi. 10.1038/ejhg.2011.188
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- Publication type:
- Article
Understanding sickle cell carrier status identified through newborn screening: a qualitative study.
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- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 303, doi. 10.1038/ejhg.2009.173
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- Publication type:
- Article
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
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- Publication type:
- Article
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
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- Nature Genetics, 2004, v. 36, n. 4, p. 405, doi. 10.1038/ng1319
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- Publication type:
- Article
Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects.
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- Canadian Medical Association Journal (CMAJ), 1993, v. 149, n. 9, p. 1239
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- Publication type:
- Article
Spectrum of outcomes following traumatic brain injury-relationship between functional impairment and health-related quality of life.
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- Acta Neurochirurgica, 2018, v. 160, n. 1, p. 107, doi. 10.1007/s00701-017-3334-6
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- Publication type:
- Article
Distributed harmonic patterns of structure-function dependence orchestrate human consciousness.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-04474-1
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- Publication type:
- Article
The complexity of the stream of consciousness.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-04109-x
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- Publication type:
- Article
Nablus syndrome: Easy to diagnose yet difficult to solve.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 447, doi. 10.1002/ajmg.c.31660
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- Article
Systematic Review: Family History in Risk Assessment for Common Diseases.
- Published in:
- Annals of Internal Medicine, 2009, v. 151, n. 12, p. 878, doi. 10.7326/0000605-200912150-00177
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- Publication type:
- Article
Mood, Activity Participation, and Leisure Engagement Satisfaction (MAPLES): results from a randomised controlled pilot feasibility trial for low mood in acquired brain injury.
- Published in:
- BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-023-03128-7
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- Publication type:
- Article
Spectral Signatures of Reorganised Brain Networks in Disorders of Consciousness.
- Published in:
- PLoS Computational Biology, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pcbi.1003887
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- Publication type:
- Article
THE ROLE OF REDUCED EAR SIZE IN THE PRENATAL DETECTION OF CHROMOSOMAL ABNORMALITIES.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 6, p. 545, doi. 10.1002/(SICI)1097-0223(199706)17:6<545::AID-PD108>3.0.CO;2-3
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- Article
Unusual segregation for 11q;22q parental translocation.
- Published in:
- 1993
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- Publication type:
- case study
Expectations and values about expanded newborn screening: a public engagement study.
- Published in:
- Health Expectations, 2015, v. 18, n. 3, p. 419, doi. 10.1111/hex.12047
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- Publication type:
- Article
Opposite effects on facial morphology due to gene dosage sensitivity.
- Published in:
- Human Genetics, 2014, v. 133, n. 9, p. 1117, doi. 10.1007/s00439-014-1455-z
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- Publication type:
- Article
A synergistic workspace for human consciousness revealed by Integrated Information Decomposition.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.88173
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- Publication type:
- Article
Pattern of injuries and management of adolescent trauma in a combined adult and paediatric major trauma centre in United Kingdom.
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- Trauma, 2021, v. 23, n. 1, p. 44, doi. 10.1177/1460408620921709
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- Publication type:
- Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-63
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- Publication type:
- Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Whole-brain modelling identifies distinct but convergent paths to unconsciousness in anaesthesia and disorders of consciousness.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03330-y
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- Publication type:
- Article
Longitudinal Bedside Assessments of Brain Networks in Disorders of Consciousness: Case Reports From the Field.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00676
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- Publication type:
- Article
Rett syndrome: A study of the face.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1563, doi. 10.1002/ajmg.a.34027
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- Publication type:
- Article
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1217, doi. 10.1002/ajmg.a.33987
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- Publication type:
- Article
Informing Integration of Genomic Medicine Into Primary Care: An Assessment of Current Practice, Attitudes, and Desired Resources.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01189
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- Publication type:
- Article