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Nicht-invasiver Pränataltest (NIPT): Aktuelle gesundheitspolitische Initiativen und inhaltliche Missverständnisse.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5
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- Publication type:
- Article
Obituary: Professor Helmut Baitsch (1921–2007).
- Published in:
- 2008
- By:
- Publication type:
- Obituary
Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques.
- Published in:
- Human Genetics, 2001, v. 108, n. 3, p. 249, doi. 10.1007/s004390100485
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- Publication type:
- Article
Twin Study on Heritability of Activity, Attention, and Impulsivity as Assessed by Objective Measures.
- Published in:
- Journal of Attention Disorders, 2006, v. 9, n. 4, p. 575, doi. 10.1177/1087054705284298
- By:
- Publication type:
- Article
Genetic Admixture History of Eastern Indonesia as Revealed by Y-Chromosome and Mitochondrial DNA Analysis.
- Published in:
- Molecular Biology & Evolution, 2009, v. 26, n. 8, p. 1865, doi. 10.1093/molbev/msp097
- By:
- Publication type:
- Article
Genetic Studies on the Cayo Santiago Rhesus Macaques: A Review of 40 Years Of Research.
- Published in:
- American Journal of Primatology, 2016, v. 78, n. 1, p. 44, doi. 10.1002/ajp.22424
- By:
- Publication type:
- Article
Metadata Correction: Conceptualization and Implementation of the Central Information Portal on Rare Diseases: Protocol for a Qualitative Study.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 729, doi. 10.1038/ejhg.2014.190
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- Publication type:
- Article
The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1247, doi. 10.1038/ejhg.2014.23
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- Publication type:
- Article
Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 25, doi. 10.1038/ejhg.2013.172
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- Publication type:
- Article
Eliciting preferences for priority setting in genetic testing: a pilot study comparing best-worst scaling and discrete-choice experiments.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1202, doi. 10.1038/ejhg.2013.36
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- Publication type:
- Article
Aufklärung über mögliche „Nebenbefunde" in der genomischen Medizin.
- Published in:
- Medizinische Genetik, 2022, v. 34, n. 3, p. 231, doi. 10.1515/medgen-2022-2147
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- Publication type:
- Article
Single nucleotide polymorphisms within the promoter region of the rhesus monkey tumor necrosis factor-alpha gene.
- Published in:
- Immunogenetics, 2005, v. 57, n. 3/4, p. 289, doi. 10.1007/s00251-005-0799-x
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- Publication type:
- Article
Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening.
- Published in:
- Genes, 2022, v. 13, n. 9, p. 1622, doi. 10.3390/genes13091622
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- Publication type:
- Article
PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 684, doi. 10.3390/genes13040684
- By:
- Publication type:
- Article
The EuroGentest Clinical Utility Gene Cards continued.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 1, doi. 10.1038/ejhg.2012.161
- By:
- Publication type:
- Article
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 911, doi. 10.1038/ejhg.2012.56
- By:
- Publication type:
- Article
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.68
- By:
- Publication type:
- Article
The EuroGentest Clinical Utility Gene Cards.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.85
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- Publication type:
- Article
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 417, doi. 10.1038/ejhg.2008.190
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- Publication type:
- Article
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1208, doi. 10.1038/ejhg.2008.93
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- Publication type:
- Article
Conservation of 5′-upstream region of the FBN1 gene in primates.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 869, doi. 10.1038/ejhg.2008.51
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- Publication type:
- Article
What is ideal genetic counselling? A survey of current international guidelines.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 445, doi. 10.1038/sj.ejhg.5201983
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- Publication type:
- Article
Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 876, doi. 10.1038/sj.ejhg.5201620
- By:
- Publication type:
- Article
Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 69, doi. 10.1038/sj.ejhg.5201287
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- Publication type:
- Article
Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, p. S88, doi. 10.1038/sj.ejhg.5201114
- By:
- Publication type:
- Article
Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome.
- Published in:
- Neuroradiology, 2009, v. 51, n. 6, p. 397, doi. 10.1007/s00234-009-0508-9
- By:
- Publication type:
- Article
Weight Change in Monozygotic Twins Treated with Valproate<sup>**</sup>.
- Published in:
- Obesity (19307381), 2005, v. 13, n. 8, p. 1330, doi. 10.1038/oby.2005.161
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- Publication type:
- Article
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
- Published in:
- British Journal of Haematology, 2009, v. 144, n. 2, p. 185, doi. 10.1111/j.1365-2141.2008.07430.x
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- Publication type:
- Article
Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency).
- Published in:
- 1998
- By:
- Publication type:
- journal article
Multiple sirehood in free-ranging twin rhesus macaques (Macaca mulatta ).
- Published in:
- American Journal of Primatology, 2002, v. 57, n. 1, p. 31, doi. 10.1002/ajp.1085
- By:
- Publication type:
- Article
Human gene cloning: the storm before the lull?
- Published in:
- Nature, 1986, v. 322, n. 6075, p. 119, doi. 10.1038/322119a0
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- Publication type:
- Article
Optimization of growth performance of freshly induced carrot suspensions concerning PMP production.
- Published in:
- In Vitro Cellular & Developmental Biology Plant, 2009, v. 45, n. 6, p. 740, doi. 10.1007/s11627-008-9189-z
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- Publication type:
- Article
Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by<i>FBN1</i> Mutations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081281
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- Publication type:
- Article
Humangenetische Beratung in Deutschland: Entwicklung der Inanspruchnahme.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2020, v. 63, n. 9, p. 1161, doi. 10.1007/s00103-020-03206-8
- By:
- Publication type:
- Article
Humoral and cellular immune response in Wistar Han RCC rats fed two genetically modified maize MON810 varieties for 90 days (EU 7th Framework Programme project GRACE).
- Published in:
- Archives of Toxicology, 2018, v. 92, n. 7, p. 2385, doi. 10.1007/s00204-018-2230-z
- By:
- Publication type:
- Article
Variability of control data and relevance of observed group differences in five oral toxicity studies with genetically modified maize MON810 in rats.
- Published in:
- Archives of Toxicology, 2017, v. 91, n. 4, p. 1977, doi. 10.1007/s00204-016-1857-x
- By:
- Publication type:
- Article
Enhancing the interpretation of statistical P values in toxicology studies: implementation of linear mixed models (LMMs) and standardized effect sizes (SESs).
- Published in:
- Archives of Toxicology, 2016, v. 90, n. 3, p. 731, doi. 10.1007/s00204-015-1487-8
- By:
- Publication type:
- Article
Ninety-day oral toxicity studies on two genetically modified maize MON810 varieties in Wistar Han RCC rats (EU 7th Framework Programme project GRACE).
- Published in:
- Archives of Toxicology, 2014, v. 88, n. 12, p. 2289, doi. 10.1007/s00204-014-1374-8
- By:
- Publication type:
- Article
Aneurysms of the Ascending Aorta.
- Published in:
- Deutsches Ärzteblatt International, 2012, v. 109, n. 29/30, p. 504, doi. 10.3238/arztebl.2012.0504a
- By:
- Publication type:
- Article
The Importance of Genetic Testing in the Clinical Management of Patients With Marfan Syndrome and Related Disorders: In Reply.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0256-3
- By:
- Publication type:
- Article
Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 44, doi. 10.1186/s13023-015-0256-3
- By:
- Publication type:
- Article
Se-atlas-cartographic representation of experts for rare diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. P1, doi. 10.1186/1750-1172-9-S1-P1
- By:
- Publication type:
- Article
The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 330, doi. 10.1186/s13023-014-0203-8
- By:
- Publication type:
- Article
Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis.
- Published in:
- European Journal of Pediatrics, 2000, v. 159, n. 15, p. S186, doi. 10.1007/PL00014400
- By:
- Publication type:
- Article
Validation of a scale for assessing attitudes towards outcomes of genetic cancer testing among primary care providers and breast specialists.
- Published in:
- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178447
- By:
- Publication type:
- Article
DNA sequence polymorphisms in genes involved in the regulation of dopamine and serotonin metabolism in rhesus macaques.
- Published in:
- Electrophoresis, 1999, v. 20, n. 8, p. 1771, doi. 10.1002/(SICI)1522-2683(19990101)20:8<1771::AID-ELPS1771>3.0.CO;2-0
- By:
- Publication type:
- Article
A nonradioactive method for sizing most D11S533 alleles discretely.
- Published in:
- Electrophoresis, 1998, v. 19, n. 10, p. 1573, doi. 10.1002/elps.1150191008
- By:
- Publication type:
- Article