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hexadactyly
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Sporadic familial ulnar hexadactyly of all four limbs.
8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral…
Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo.
A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial …
Laurence Moon Bardet Biedl syndrome associated with dyslipoproteinaemia.
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Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom
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