Publications:

Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy.

Investigative Ophthalmology & Visual Science

Calzetti, Giacomo G; La Morgia, Chiara C; Cattaneo, Marco M; Carta, Arturo A; Bosello, Francesca F; Amore, Giulia G; Carbonelli, Michele M; Cascavilla, Maria Lucia ML; Gandolfi, Stefano S; Carelli, Valerio V; Schmetterer, Leopold L; Scholl, Hendrik P N HPN; Barboni, Piero P

Publication Date: 2022-01-03

Variant appearance in text: CCD: 152A>G

PubMed Link: 35098304

Variant Present in the following documents:

• Main text

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Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy.

Investigative Ophthalmology & Visual Science

Calzetti, Giacomo G; La Morgia, Chiara C; Cattaneo, Marco M; Carta, Arturo A; Bosello, Francesca F; Amore, Giulia G; Carbonelli, Michele M; Cascavilla, Maria Lucia ML; Gandolfi, Stefano S; Carelli, Valerio V; Schmetterer, Leopold L; Scholl, Hendrik P N HPN; Barboni, Piero P

Publication Date: 2022-01-03

Variant appearance in text: CCD: 152A>G

PubMed Link: 35098304

Variant Present in the following documents:

• Main text

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NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Diagnostics (Basel, Switzerland)

Esposito, Maria Valeria MV; Comegna, Marika M; Cernera, Gustavo G; Gelzo, Monica M; Paparo, Lorella L; Berni Canani, Roberto R; Castaldo, Giuseppe G

Publication Date: 2021-02-08

Variant appearance in text: CCD: 152A>G

PubMed Link: 33567694

Variant Present in the following documents:

• Main text
• diagnostics-11-00262.pdf

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