Found: 23
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Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.
- Published in:
- Genes, 2022, v. 13, n. 12, p. 2327, doi. 10.3390/genes13122327
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- Publication type:
- Article
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
- Published in:
- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2022.874695
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- Publication type:
- Article
Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late‐onset neurological diseases.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 5, p. 1480, doi. 10.1002/jgc4.1415
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- Publication type:
- Article
Peter S. Harper: obituary.
- Published in:
- 2021
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- Publication type:
- Editorial
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 442, doi. 10.1002/ajmg.a.61045
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- Publication type:
- Article
Communication of Information about Genetic Risks: Putting Families at the Center.
- Published in:
- Family Process, 2018, v. 57, n. 3, p. 836, doi. 10.1111/famp.12306
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- Publication type:
- Article
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 35, doi. 10.1002/ajmg.b.32582
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- Publication type:
- Article
For Your Interest? The Ethical Acceptability of Using Non-Invasive Prenatal Testing to Test 'Purely for Information'.
- Published in:
- Bioethics, 2015, v. 29, n. 1, p. 19, doi. 10.1111/bioe.12125
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- Publication type:
- Article
Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2482, doi. 10.1002/ajmg.a.36507
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- Publication type:
- Article
Managing the ethical challenges of next-generation sequencing in genomic medicine.
- Published in:
- British Medical Bulletin, 2014, v. 111, n. 1, p. 17, doi. 10.1093/bmb/ldu017
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- Publication type:
- Article
Accounts of consent: Orienting to self-other relations regarding motivations to participate in cancer bio-banking.
- Published in:
- Communication & Medicine (Equinox Publishing Group), 2014, v. 11, n. 1, p. 69, doi. 10.1558/cam.v11i1.17324
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- Publication type:
- Article
A Nonsense Mutation in the <i>IKBKG</i> Gene in Mares with Incontinentia Pigmenti.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081625
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- Publication type:
- Article
‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care.
- Published in:
- Human Genomics, 2012, v. 6, n. 1, p. 1, doi. 10.1186/1479-7364-6-11
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- Publication type:
- Article
Rett syndrome: Revised diagnostic criteria and nomenclature.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 6, p. 944, doi. 10.1002/ana.22124
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- Publication type:
- Article
GWAS: heritability missing in action?
- Published in:
- 2010
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- Publication type:
- Letter
Gerard de Vries and Klasien Horstman (eds): Genetics from laboratory to society. Societal learning as an alternative to regulation.
- Published in:
- 2009
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- Publication type:
- Book Review
Process and outcome in communication of genetic information within families: a systematic review.
- Published in:
- 2008
- By:
- Publication type:
- Correction notice
Process and outcome in communication of genetic information within families: a systematic review.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 999, doi. 10.1038/sj.ejhg.5201883
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- Publication type:
- Article
Early onset seizures and Rett-like features associated with mutations in CDKL5.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 10, p. 1113, doi. 10.1038/sj.ejhg.5201451
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- Publication type:
- Article
Genetic risk estimation by health care professionals.
- Published in:
- Medical Journal of Australia, 2005, v. 182, n. 11, p. 596, doi. 10.5694/j.1326-5377.2005.tb06829.x
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- Publication type:
- Article
Emphasizing parental choice on newborn screening.
- Published in:
- British Journal of Midwifery, 2005, v. 13, n. 3, p. 165, doi. 10.12968/bjom.2005.13.3.17637
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- Publication type:
- Article
Genetic risk estimation by healthcare professionals.
- Published in:
- Medical Journal of Australia, 2005, v. 182, n. 3, p. 116, doi. 10.5694/j.1326-5377.2005.tb06610.x
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- Publication type:
- Article
The genetic revolution and medicine in the 21st century.
- Published in:
- European Review, 1997, v. 5, n. 1, p. 39, doi. 10.1002/(SICI)1234-981X(199701)5:1<39::AID-EURO150>3.0.CO;2-6
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- Publication type:
- Article