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Your search keyword '"Maria Cristina, Digilio"' showing total 9 results

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9 results on '"Maria Cristina, Digilio"'

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1. Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature

2. Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature

3. Genetics of atrioventricular canal defects

4. Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

5. Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations

6. Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

7. Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

8. Acro-cardio-facial syndrome

9. Obituary of Dr. Angelo Di George

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