"Giuffrè Mario" / Database: Springer Nature Journals / Topic: contiguous gene syndrome - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Giuffrè Mario"' showing total 3 results

Start Over "Giuffrè Mario" Topic contiguous gene syndrome Database Springer Nature Journals

3 results on '"Giuffrè Mario"'

1. New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception

Author: Serra, Gregorio, Antona, Vincenzo, Cimador, Marcello, Collodoro, Giorgia, Guida, Marco, Piro, Ettore, Schierz, Ingrid Anne Mandy, Verde, Vincenzo, Giuffrè, Mario, and Corsello, Giovanni
Published: 2023
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2. Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

Author: Serra, Gregorio, Antona, Vincenzo, Giuffrè, Mario, Piro, Ettore, Salerno, Sergio, Schierz, Ingrid Anne Mandy, and Corsello, Giovanni
Published: 2022
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3. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

Author: Serra, Gregorio, Felice, Sofia, Antona, Vincenzo, Di Pace, Maria Rita, Giuffrè, Mario, Piro, Ettore, and Corsello, Giovanni
Published: 2022
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