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Works (2)

Expanding the Spectrum of Autosomal Dominant <i>ATP6V1A</i>-Related Disease: Case Report and Literature Review

Genes
2024-09 | Journal article | Author
Contributors: Fabio Sirchia; Ivan Taietti; Myriam Donesana; Francesco Bassanese; Andrea Martina Clemente; Eliana Barbato; Alessandro Orsini; Alessandro Ferretti; Gian Luigi Marseglia; Salvatore Savasta et al.
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Multidisciplinary Digital Publishing Institute

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Genes
2024-03 | Journal article | Author
Contributors: VALENTINA TREVISAN; ANNA MERONI; Chiara Leoni; Fabio Sirchia; DAVIDE POLITANO; Giacomo Fiandrino; Valentina Giorgio; Donato Rigante; Domenico Limongelli; Lucrezia Perri et al.
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Multidisciplinary Digital Publishing Institute