Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

por Mucciolo, Mafalda, Dello Russo, Claudio, D’Emidio, Laura, Mesoraca, Alvaro, Giorlandino, Claudio
Publicado 2016

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

por Margiotti, Katia, Cesta, Anthony, Dello Russo, Claudio, Cima, Antonella, Barone, Maria Antonietta, Viola, Antonella, Sparacino, Davide, Mesoraca, Alvaro, Giorlandino, Claudio
Publicado 2020

Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Exam...

por Libotte, Francesco, Carpineto, Sonia Lorena, Dello Russo, Claudio, Viola, Antonella, Margiotti, Katia, Restaldi, Fabrizia, Novelli, Antonio, Mesoraca, Alvaro, Giorlandino, Claudio
Publicado 2020

Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study

por Mesoraca, Alvaro, Margiotti, Katia, Dello Russo, Claudio, Cesta, Anthony, Cima, Antonella, Longo, Salvatore Antonio, Barone, Maria Antonietta, Viola, Antonella, Sparacino, Davide, Giorlandino, Claudio
Publicado 2020

Agnathia-Otocephaly Complex Due to a De Novo Deletion in the OTX2 Gene

por Fabiani, Marco, Libotte, Francesco, Margiotti, Katia, Tannous, Dina Khader Issa, Sparacino, Davide, D’Aleo, Maria Pia, Monaco, Francesca, Dello Russo, Claudio, Mesoraca, Alvaro, Giorlandino, Claudio
Publicado 2022