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Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.

Autor: Moresco, Giada, Rondinone, Ornella, Mauri, Alessia, Costanza, Jole, Santaniello, Carlo, Colapietro, Patrizia, Micaglio, Emanuele, Marfia, Giovanni, Pesenti, Chiara, Grilli, Federico, Rinaldi, Berardo, Prada, Elisabetta, Scuvera, Giulietta, Villa, Roberta, Bedeschi, Maria Francesca, Miozzo, Monica Rosa, Milani, Donatella, Fontana, Laura

Publikováno v: Genes & Genomics; May2023, Vol. 45 Issue 5, p637-655, 19p

MYNd&CO (Mindfulness, Yoga, Nutrition, development & Coaching, and Osteopathy) randomized controlled trial for a positive psychophysical experience in pregnancy and after birth: a study protocol

Autor: Giovannini, Niccolò, Cetera, Giulia Emily, Ercolino, Carolina, Miozzo, Monica Rosa, Parazzini, Fabio, Ferrazzi, Enrico Maria, Manzotti, Andrea, Colaceci, Sofia

Publikováno v: Acta Bio Medica : Atenei Parmensis

Background and aim of the study: The medicalisation of birth pathway may negatively impact on women’s empowerment, enhancing distress even in cases of healthy pregnancies. We have built a program which is comprised of Mindfulness, Yoga, Nutrition,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fcfa4a1d35b7d60a66f1896b463381ba
http://europepmc.org/articles/PMC8383226

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Autor: Moresco G; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Rondinone O; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Mauri A; Research Laboratories Coordination Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Biomedical and Clinical Sciences, Pediatric Clinical Research Center 'Romeo ed Enrica Invernizzi', University of Milan, Milan, Italy., Gorgoglione R; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy., Graziani DMG; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy.; Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Dziuback M; Orthopedics and Traumatology Unit, ASST Santi Paolo e Carlo, Milan, Italy., Miozzo MR; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy., Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Pietrogrande L; Orthopedics and Traumatology Unit, ASST Santi Paolo e Carlo, Milan, Italy.; Orthopedics and Traumatology, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Peron A; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy. angela.peron@unifi.it.; Division of Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy. angela.peron@unifi.it.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy. angela.peron@unifi.it., Fontana L; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy.

Publikováno v: Genes & genomics [Genes Genomics] 2024 Oct 28. Date of Electronic Publication: 2024 Oct 28.