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P. G. Middleton et al.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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D. M. Ameratunga et al.
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Ingrid Dugueperoux et al.
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Alix de Becdelievre et al.
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Ivan A. Adzhubei et al.
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Florine Oca et al.
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Els Dequeker et al.
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F Lejeune et al.
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GE Palomaki et al.
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Nonvisualization of the fetal gallbladder in early pregnancy: Comparison with clinical outcome
S Blazer et al.
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F Muller et al.
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Prenatal detection of cystic fibrosis by ultrasonography:: a retrospective study of more than 346 000 pregnancies
V Scotet et al.
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JL Bobadilla et al.
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M Gentzsch et al.
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Hyperechogenic fetal bowel: a prospective analysis of sixty consecutive cases
I Ghose et al.
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