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2005

Rare chromosomal abnormalities: a mosaic of four cellular lines with two rings involving chromosomes X and 21. Firts report in a male newborn patient

Cassata, N.; Cavani, S.; Malacarne, M.; Pierluigi, M., 2005, In : THE ITALIAN JOURNAL OF PEDIATRICS. 31, p. 70-76 7 p.

Research output: Contribution to journalArticle

2004
16 Citations (Scopus)

Identification of a new nonsense mutation (Tyr129Stop) of the SRY Gene in a Newborn Infant with Sex-reversal.

Sammarco, P.; Fabiano, C.; Giardina, F.; Lunetta, F., 2004, In : AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 128A, p. 46-47 2 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal

Giuffre, M., Corsello, G., Sammarco, P., Giardina, F., Fabiano, C. & Lunetta, F., 2004, In : AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 128A, p. 46-47 2 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Long gap esophageal atresia and associated anomalies: experience with three cases

M., C.; A., C., 2004, In : THE ITALIAN JOURNAL OF PEDIATRICS. 30, p. 184-188 5 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
1 Citation (Scopus)

Newborn with oral, facial and digital abnormalities

Corsello, G., Piccione, M., Anastasi, M., Giuffre, M., Anastasi & Anastasi, 2004, In : THE ITALIAN JOURNAL OF PEDIATRICS. 30, p. 83-85

Research output: Contribution to journalArticle

Rapid molecular diagnosis of Gilbert’s syndrome

Corsello, G., Piccione, M., Giuffre, M. & Sammarco, P., 2004, In : THE ITALIAN JOURNAL OF PEDIATRICS. 30, p. 245-247

Research output: Contribution to journalArticle

Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings

Corsello, G., Giuffre, M., Rizzuti, Giuffrè, Parini, Morandi, Van Diggelen, Mosca, F., Bruno & Bruno, C., 2004, In : Journal of Inherited Metabolic Disease. 27, p. 609-619

Research output: Contribution to journalArticle

17 Citations (Scopus)