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Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report.
Published in:
2019
By:
- Tallegas, Matthias;
- Fraitag, Sylvie;
- Binet, Aurélien;
- Orbach, Daniel;
- Jourdain, Anne;
- Reynaud, Stéphanie;
- Pierron, Gaëlle;
- Machet, Marie-Christine;
- Maruani, Annabel
Publication type:
journal article
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25844-5
By:
- Haro, Endika;
- Petit, Florence;
- Pira, Charmaine U.;
- Spady, Conor D.;
- Lucas-Toca, Sara;
- Yorozuya, Lauren I.;
- Gray, Austin L.;
- Escande, Fabienne;
- Jourdain, Anne-Sophie;
- Nguyen, Andy;
- Fellmann, Florence;
- Good, Jean-Marc;
- Francannet, Christine;
- Manouvrier-Hanu, Sylvie;
- Ros, Marian A.;
- Oberg, Kerby C.
Publication type:
Article
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1351, doi. 10.1002/ajmg.a.61177
By:
- Brunelle, Perrine;
- Jourdain, Anne‐Sophie;
- Escande, Fabienne;
- Martinovic, Jelena;
- Dupont, Juliette;
- Busa, Tiffany;
- Moncla, Anne;
- Frénois, Frédéric;
- Stichelbout, Morgane;
- Manouvrier‐Hanu, Sylvie;
- Petit, Florence
Publication type:
Article
Réconcilier l'art et l'artisanat Une étude de l'artisanat d'art.
Published in:
Sociologie de l' Art, 2012, n. 21, p. 21
By:
- JOURDAIN, Anne
Publication type:
Article
THE INFLUENCE OF THE PACKAGE ENVIRONMENT ON THE FUNCTIONING AND RELIABILITY OF CAPACITIVE RF-MEMS SWITCHES.
Published in:
Microwave Journal, 2005, v. 48, n. 12, p. 102
By:
- De Wolf, Ingrid;
- Czarnecki, Piotr;
- Jourdain, Anne;
- Modlinski, Robert;
- Tilmans, Harrie A. C.;
- Puers, Robert;
- Van Beek, Joost T. M.;
- Van Spengen, W. Merlijn
Publication type:
Article
Vascular Mass of the Scalp in a Newborn: A Quiz.
Published in:
2019
By:
- EDEE, Afi-Emiliène;
- TALLEGAS, Matthias;
- JOURDAIN, Anne;
- LISTRAT, Antoine;
- MOREL, Baptiste;
- MARUANI, Annabel
Publication type:
Case Study
Outcome of relapse in children and adolescents with B-cell non-Hodgkin lymphoma and mature acute leukemia: A report from the French LMB study.
Published in:
2019
By:
- Rigaud, Charlotte;
- Auperin, Anne;
- Jourdain, Anne;
- Haouy, Stephanie;
- Couec, Marie‐Laure;
- Aladjidi, Nathalie;
- Gandemer, Virginie;
- Lambliotte, Anne;
- Plat, Geneviève;
- Landman‐Parker, Judith;
- Michon, Jean;
- Leblanc, Thierry;
- Patte, Catherine;
- Minard‐Colin, Veronique;
- Couec, Marie-Laure;
- Landman-Parker, Judith;
- Minard-Colin, Veronique
Publication type:
journal article
Dasatinib-associated follicular lymphoid hyperplasia: First pediatric case report and literature review.
Published in:
2017
By:
- Bouquet, Emilie;
- Jourdain, Anne;
- Machet, Marie-Christine;
- Beau-Salinas, Frédérique;
- Jonville-Béra, Annie-Pierre;
- Beau-Salinas, Frédérique;
- Jonville-Béra, Annie-Pierre
Publication type:
Case Study
SMARCA4-Mutated Atypical Teratoid/Rhabdoid Tumor with Retained BRG1 Expression.
Published in:
2016
By:
- Masliah‐Planchon, Julien;
- Machet, Marie‐Christine;
- Fréneaux, Paul;
- Jourdain, Anne;
- Mortemousque, Isabelle;
- Raïs, Khadija Aït;
- Ballet, Stelly;
- Jouvet, Anne;
- Figarella‐Branger, Dominique;
- Delattre, Olivier;
- Bourdeaut, Franck
Publication type:
Case Study
Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.
Published in:
2024
By:
- Barbotin, Anne-Laure;
- Boursier, Angèle;
- Jourdain, Anne-Sophie;
- Moerman, Alexandre;
- Rabat, Baptiste;
- Chehimi, Mariam;
- Thuillier, Caroline;
- Ghoumid, Jamal;
- Smol, Thomas
Publication type:
Case Study
Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry.
Published in:
Pediatric Blood & Cancer, 2009, v. 53, n. 6, p. 1068, doi. 10.1002/pbc.22147
By:
- Beaupain, Blandine;
- Leblanc, Thierry;
- Reman, Oumédaly;
- Hermine, Olivier;
- Vannier, Jean-Pierre;
- Suarez, Felipe;
- Lutz, Patrick;
- Bordigoni, Pierre;
- Jourdain, Anne;
- Schoenvald, Michele;
- Ouachee, Marie;
- François, Sylvie;
- Kohser, Fréderic;
- Jardin, Fabrice;
- Devouassoux, Gilles;
- Bertrand, Yves;
- Nove-Josserand, Raphaele;
- Donadieu, Jean
Publication type:
Article
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Published in:
Human Mutation, 2020, v. 41, n. 7, p. 1220, doi. 10.1002/humu.24021
By:
- Boussion, Simon;
- Escande, Fabienne;
- Jourdain, Anne‐Sophie;
- Smol, Thomas;
- Brunelle, Perrine;
- Duhamel, Céline;
- Alembik, Yves;
- Attié‐Bitach, Tania;
- Baujat, Geneviève;
- Bazin, Anne;
- Bonnière, Maryse;
- Carassou, Philippe;
- Carles, Dominique;
- Devisme, Louise;
- Goizet, Cyril;
- Goldenberg, Alice;
- Grotto, Sarah;
- Guichet, Agnès;
- Jouk, Pierre‐Simon;
- Loeuillet, Laurence
Publication type:
Article
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations.
Published in:
Human Mutation, 2020, v. 41, n. 1, p. 222, doi. 10.1002/humu.23912
By:
- Jourdain, Anne‐Sophie;
- Petit, Florence;
- Odou, Marie‐Françoise;
- Balduyck, Malika;
- Brunelle, Perrine;
- Dufour, William;
- Boussion, Simon;
- Brischoux‐Boucher, Elise;
- Colson, Cindy;
- Dieux, Anne;
- Gérard, Marion;
- Ghoumid, Jamal;
- Giuliano, Fabienne;
- Goldenberg, Alice;
- Khau Van Kien, Philippe;
- Lehalle, Daphné;
- Morin, Gilles;
- Moutton, Sébastien;
- Smol, Thomas;
- Vanlerberghe, Clémence
Publication type:
Article
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352006
By:
- Mansour-Hendili, Lamisse;
- Gitiaux, Cyril;
- Harion, Madeleine;
- Latouche, Céline;
- Heron, Bénédicte;
- Stojkovic, Tanya;
- Rama, Mélanie;
- Smol, Thomas;
- Jourdain, Anne Sophie;
- Mention, Karine;
- Nadjar, Yann;
- Schiff, Manuel;
- Lemale, Julie;
- Ghoumid, Jamal;
- Gottrand, Frédéric;
- Talbotec, Cécile;
- Rötig, Agnès;
- Funalot, Benoît;
- Desguerre, Isabelle
Publication type:
Article

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