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Images in Paediatric Cardiology|February 28, 2012
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome)Mc Digilio, B Marino, R Capolino, et al.
Genetic Counseling (Geneva, Switzerland)|November 5, 1999
Non-immune fetal hydrops associated with nuchal cystic hygroma: further evidence for an autosomal recessive subtypeL Bruni, E Maggi, R Capolino, et al.
European Review for Medical and Pharmacological Sciences|November 5, 1999
Lipid anomaly in a child with partial duplication 3pL Bruni, R Basili, R Capolino, et al.
European Review for Medical and Pharmacological Sciences|July 1, 1997
A case of pediatric systemic lupus erythematosus with early onset and unusual serologic and clinical findingsM C Tozzi, L Bruni, R Capolino, et al.
Annales De Genetique|January 1, 1996
Down syndrome with unusual chromosome translocation: case report and reviewL Bruni, R Capolino, M C Tozzi, et al.
Acta Ortopedica Mexicana|July 6, 2022
[Mutation c.3037G>A in the FBN1 gene associated with neonatal Marfan syndrome variant]F Cammarata-Scalisi, R Capolino, M Magliozzi, et al.
Clinical Genetics|February 11, 2018
Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB geneM L Dentici, A Terracciano, E Bellacchio, et al.
European Journal of Paediatric Dentistry|November 28, 2023
First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida typeV Quinzi, C De Luca, F Giovannetti, et al.
Cytogenetic and Genome Research|September 2, 2008
Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormalityC Surace, M C Digilio, A Lombardo, et al.
Molecular Syndromology|December 23, 2011
RASopathies: Clinical Diagnosis in the First Year of LifeM C Digilio, F Lepri, A Baban, et al.
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