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Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome by Pascale Kleinfinger, Marie Brechard, Armelle Luscan, Detlef Trost, Aicha Boughalem, Mylene Valduga, Stéphane Serero DR, Jean-Marc Costa, Laurence Lohmann
Published 2022-09-01
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Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain by Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga, Aline Receveur, Fernando Martin, Detlef Trost
Published 2024-08-01
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