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Prenatal Diagnosis, ISSN 0197-3851, 2016, Volume 36, pp. 1091 - 1098
OBJECTIVE: To evaluate preferences and decision-making among high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive... 
Journal Article
Journal of Genetic Counseling, ISSN 1059-7700, 2017, Volume 26, pp. 1348 - 1356
Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2010, Volume 47, pp. 169 - 175
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2013, Volume 50, pp. 309 - 323
BACKGROUND: Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2014, Volume 51, Issue 2, pp. 90 - 97
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 3, pp. 123 - 128
Journal Article
British Journal of Oral & Maxillofacial Surgery, ISSN 0266-4356, 2007, Volume 45, pp. 499 - 500
Journal Article
Case reports in obstetrics and gynecology, ISSN 2090-6692, 2016, Volume 2016, pp. 7625341 - 5
Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of... 
Case studies | Infants (Newborn) | Complications and side effects | Transcription factors | Prenatal diagnosis | Genetic disorders | Genetic aspects | Caudal regression syndrome | Health aspects | Risk factors | Methods | Diseases | Case Report
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2010, Volume 47, Issue 3, pp. 169 - 175
Objectives To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2010, Volume 47, Issue 3, pp. 169 - 175
Journal Article
Journal of Epidemiology and Community Health, ISSN 0143-005X, 2002, Volume 56, Issue 2, pp. 145 - 147
Journal Article
Journal of Epidemiology and Community Health, ISSN 0143-005X, 2002, Volume 56, Issue 2, pp. 145 - 147
Journal Article
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