Showing 1 - 9 results of 9 for search 'Delphine Mallet', query time: 0.04s
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Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder by Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Delphine Mallet, Delphine Mallet, Nicolas Chatron, Nicolas Chatron, Nicolas Chatron, Frédérique Dijoud, Daniela Brindusa Gorduza, Daniela Brindusa Gorduza, Patricia Bretones, Patricia Bretones, Yves Morel, Yves Morel, Yves Morel
Published 2019-09-01
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Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria by Asmahane Ladjouze, Malcolm Donaldson, Ingrid Plotton, Nacima Djenane, Kahina Mohammedi, Véronique Tardy-Guidollet, Delphine Mallet, Kamélia Boulesnane, Zair Bouzerar, Yves Morel, Florence Roucher-Boulez
Published 2022-06-01
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Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene by Claire Goursaud, Delphine Mallet, Delphine Mallet, Alexandre Janin, Alexandre Janin, Alexandre Janin, Rita Menassa, Rita Menassa, Véronique Tardy-Guidollet, Véronique Tardy-Guidollet, Véronique Tardy-Guidollet, Gianni Russo, Anne Lienhardt-Roussie, Claudine Lecointre, Ingrid Plotton, Ingrid Plotton, Ingrid Plotton, Yves Morel, Yves Morel, Yves Morel, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez
Published 2018-09-01
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Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5) by Jordan Teoli, Jordan Teoli, Jordan Teoli, Delphine Mallet, Delphine Mallet, Lucie Renault, Claire-Lise Gay, Claire-Lise Gay, Elsa Labrune, Elsa Labrune, Elsa Labrune, Patricia Bretones, Patricia Bretones, Sandrine Giscard D’Estaing, Sandrine Giscard D’Estaing, Sandrine Giscard D’Estaing, Béatrice Cuzin, Frédérique Dijoud, Frédérique Dijoud, Frédérique Dijoud, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Florence Roucher-Boulez, Ingrid Plotton, Ingrid Plotton, Ingrid Plotton, Ingrid Plotton, Ingrid Plotton
Published 2023-06-01
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Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation by Cécily Lucas, Kay-Sara Sauter, Michael Steigert, Delphine Mallet, James Wilmouth, Julie Olabe, Ingrid Plotton, Yves Morel, Daniel Aeberli, Franca Wagner, Hans Clevers, Amit V. Pandey, Pierre Val, Florence Roucher-Boulez, Christa E. Flück
Published 2023-02-01
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Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France by Estelle Bonnet, Mathias Winter, Delphine Mallet, Ingrid Plotton, Claire Bouvattier, Maryse Cartigny, Laetiti Martinerie, Michel Polak, Anne Bachelot, Frédéric Huet, Sabine Baron, Muriel Houang, Sylvie Soskin, Anne Lienhardt, Jérôme Bertherat, Cyril Amouroux, Aurore Bouty, Lise Duranteau, Rémi Besson, Alaa El Ghoneimi, Dinane Samara-Boustani, François Becmeur, Nicolas Kalfa, Françoise Paris, François Medjkane, Aude Brac de la Perrière, Patricia Bretones, Hervé Lejeune, Marc Nicolino, Pierre Mouriquand, Daniela-Brindusa Gorduza, Claire-Lise Gay
Published 2023-02-01
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