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Profiling mitochondrial DNA variant segregation during human preimplantation development: a prerequisite to preimplantation genetic testing for mitochondrial DNA-related disorders

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Year: 2025
Type: article
Source: Human Reproduction
DOI: 10.1093/humrep/deaf050
Authors: Paula Rubens, Anne Mayeur, Kalliopi Chatzovoulou, Nadine Gigarel, Sophie Monnot, Agnès Rötig, Arnold Munnich, Nelly Frydman, Julie Steffann
Institutions: Hôpital Necker-Enfants Malades, Inserm, Université Paris Cité, Institut Necker Enfants Malades, Assistance Publique – Hôpitaux de Paris, Institut des Maladies Génétiques Imagine, Hôpital Antoine-Béclère
Language: English

Topic: Prenatal Screening and Diagnostics
Subfield: Pediatrics, Perinatology and Child Health
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: Agence Nationale de la Recherche
Awards: Génétique et Epigénétique Nouvelle Ecole, Université de Paris
OpenAlex ID: W4409148297
FWCI: 10.95
Cites: 36
Cited by: 8
Related to: 10
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