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Women and health care professionals' preferences for Down's Syndrome screening tests: a conjoint analysis study.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2004, v. 111, n. 8, p. 775, doi. 10.1111/j.1471-0528.2004.00197.x
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- Publication type:
- Article
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1777, doi. 10.1002/ajmg.a.36506
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- Publication type:
- Article
Non-visualisations of the fetal bladder: aetiology and management.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 11, p. 977, doi. 10.1002/pd.205
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- Publication type:
- Article
Prenatal evaluation of fetal neck masses in preparation for the EXIT procedure: the value of pulmonary Doppler ultrasonography (PDU).
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- Prenatal Diagnosis, 2001, v. 21, n. 4, p. 308, doi. 10.1002/pd.56
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- Publication type:
- Article
Prenatal features of Noonan syndrome.
- Published in:
- 1999
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- Publication type:
- journal article
Perlman syndrome--a cause of enlarged, hyperechogenic kidneys.
- Published in:
- 1998
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- Publication type:
- journal article
Ultrasound screening for fetal abnormalities in the first trimester.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 13, p. 1269, doi. 10.1002/(SICI)1097-0223(199712)17:13<1269::AID-PD3>3.0.CO;2-G
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- Publication type:
- Article
PRENATAL DIAGNOSIS OF BLACKFAN-DIAMOND SYNDROME: CASE REPORT AND REVIEW OF THE LITERATURE.
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- Prenatal Diagnosis, 1996, v. 16, n. 4, p. 349, doi. 10.1002/(SICI)1097-0223(199604)16:4<349::AID-PD854>3.0.CO;2-#
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- Publication type:
- Article
Ultrasound screening for fetal abnormalities.
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- Prenatal Diagnosis, 1995, v. 15, n. 13, p. 1241, doi. 10.1002/pd.1970151306
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- Publication type:
- Article
Measurement of the fetal mandible-feasibility and construction of a centile chart.
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- Prenatal Diagnosis, 1993, v. 13, n. 8, p. 749, doi. 10.1002/pd.1970130809
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- Publication type:
- Article
Charts of fetal size: limb bones.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2002, v. 109, n. 8, p. 919, doi. 10.1111/j.1471-0528.2002.01022.x
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- Publication type:
- Article
Intra-amniotic inflammation in human gastroschisis: possible aetiology of postnatal bowel dysfunction.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1998, v. 105, n. 11, p. 1200, doi. 10.1111/j.1471-0528.1998.tb09975.x
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- Publication type:
- Article
Authors's reply.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 10, p. 924, doi. 10.1111/j.1471-0528.1994.tb13563.x
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- Publication type:
- Article
Charts of fetal size: 4. Femur length.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 2, p. 132, doi. 10.1111/j.1471-0528.1994.tb13078.x
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- Publication type:
- Article
Charts of fetal size: 3. Abdominal measurements.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 2, p. 125, doi. 10.1111/j.1471-0528.1994.tb13077.x
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- Publication type:
- Article
Charts of fetal size: 1. Methodology.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 1, p. 29, doi. 10.1111/j.1471-0528.1994.tb13006.x
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- Publication type:
- Article
Charts of fetal size: 2. Head measurements*.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 1, p. 35, doi. 10.1111/j.1471-0528.1994.tb13007.x
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- Publication type:
- Article
Techniques in current use in prenatal diagnosis.
- Published in:
- 1994
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- Publication type:
- journal article
A Case-Control Study of Maternal Periconceptual and Pregnancy Recreational Drug Use and Fetal Malformation Using Hair Analysis.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0111038
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- Publication type:
- Article
Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down’s Syndrome Using Cell Free Fetal DNA in the UK National Health Service.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093559
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- Publication type:
- Article
Evaluation of a Novel Assay for Detection of the Fetal Marker RASSF1A: Facilitating Improved Diagnostic Reliability of Noninvasive Prenatal Diagnosis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045073
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- Publication type:
- Article
Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0025202
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- Publication type:
- Article
Evaluation of Allelic Expression of Imprinted Genes in Adult Human Blood.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013556
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- Publication type:
- Article
Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study.
- Published in:
- Health & Social Care Delivery Research (HSDR), 2022, v. 10, n. 6, p. vii, doi. 10.3310/LNZZ5321
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- Publication type:
- Article
Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study.
- Published in:
- Health & Social Care Delivery Research (HSDR), 2022, v. 10, n. 5, p. 7, doi. 10.3310/LNZZ5321
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- Publication type:
- Article
Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers.
- Published in:
- Health Expectations, 2017, v. 20, n. 6, p. 1289, doi. 10.1111/hex.12568
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- Publication type:
- Article
Will the introduction of non-invasive prenatal testing for Down's syndrome undermine informed choice?
- Published in:
- Health Expectations, 2015, v. 18, n. 5, p. 1658, doi. 10.1111/hex.12159
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1438, doi. 10.1038/ejhg.2015.57
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2015.109
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- Publication type:
- Article
An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1004, doi. 10.1038/ejhg.2014.238
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- Publication type:
- Article
Non-invasive prenatal testing for single gene disorders: exploring the ethics.
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- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 713, doi. 10.1038/ejhg.2012.250
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- Publication type:
- Article
Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.
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- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1127, doi. 10.1038/ejhg.2012.50
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- Publication type:
- Article
Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02934-9
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- Publication type:
- Article
Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study.
- Published in:
- 2017
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- Publication type:
- journal article
Abnormal folate metabolism in foetuses affected by neural tube defects.
- Published in:
- 2007
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- Publication type:
- journal article
Abnormal folate metabolism in foetuses affected by neural tube defects.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 4, p. 1043
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- Publication type:
- Article
Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening.
- Published in:
- 2017
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- Publication type:
- Editorial
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.
- Published in:
- Clinical Chemistry, 2024, v. 70, n. 5, p. 727, doi. 10.1093/clinchem/hvae023
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- Publication type:
- Article
Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 2, p. 160, doi. 10.1093/clinchem/hvac207
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- Publication type:
- Article
Cell-Free DNA in Pediatric Solid Organ Transplantation Using a New Detection Method of Separating Donor-Derived from Recipient Cell-Free DNA.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 10, p. 1300, doi. 10.1093/clinchem/hvaa173
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- Publication type:
- Article
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 1, p. 207, doi. 10.1373/clinchem.2019.305011
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- Publication type:
- Article
Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 1, p. 53, doi. 10.1373/clinchem.2019.304238
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- Publication type:
- Article
Digital PCR Analysis of Maternal Plasma for Noninvasive Detection of Sickle Cell Anemia.
- Published in:
- Clinical Chemistry, 2012, v. 58, n. 6, p. 1025, doi. 10.1373/clinchem.2011.178939
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- Publication type:
- Article
Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 5, p. 411, doi. 10.1111/cge.13607
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- Publication type:
- Article
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.
- Published in:
- BMC Pregnancy & Childbirth, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2393-14-229
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- Publication type:
- Article
Women’s Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153147
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- Publication type:
- Article
Preferences for coordinated care for rare diseases: discrete choice experiment.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03353-0
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- Publication type:
- Article
Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders.
- Published in:
- Clinical Science, 2022, v. 136, n. 22, p. 1615, doi. 10.1042/CS20210380
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- Publication type:
- Article
Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 389, doi. 10.1002/pd.6469
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- Publication type:
- Article