Publications by authors named "M Valduga"

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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.
Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Mylène Valduga

Front Genet· August 2024

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Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Pascale Kleinfinger, Armelle Luscan, Léa Descourvieres, Daniela Buzas, Aicha Boughalem, Mylène Valduga

Genes (Basel)· November 2022

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Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.
Natacha Sloboda, Arthur Sorlin, Mylène Valduga, Mylène Beri-Dexheimer, Claire Bilbault

Front Immunol· October 2020

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Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
Pascale Kleinfinger, Laurence Lohmann, Armelle Luscan, Detlef Trost, Laurent Bidat, Mylene Valduga

J Clin Med· August 2020

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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Marguerite Hureaux, Sarah Guterman, Bérénice Hervé, Marianne Till, Sylvie Jaillard, Myléne Valduga

Prenat Diagn· May 2019

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