5 results on '"Bertucci, Emma"'
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2. Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings
3. Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome
4. Pre- and post-natal growth in two sisters with 3-M syndrome
5. Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome
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