Risultati della ricerca - A.‐C. Bursztejn

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  1. 1
    Propranolol-resistant infantile haemangiomas

    Propranolol-resistant infantile haemangiomas di S. Caussé, H. Aubert, M. Saint‐Jean, E. Puzenat, A.‐C. Bursztejn, C. Eschard, E. Mahé, A. Maruani, J. Mazereeuw‐Hautier, I. Dreyfus, J. Miquel, C. Chiavérini, O. Boccara, S. Hadj‐Rabia, J.‐F. Stalder, S. Barbarot

    Pubblicazione 2013
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  2. 2
    Unusual cutaneous features associated with a heterozygous gain-of-function mutation in<i>IFIH1</i>: overlap between Aicardi-Goutières and Singleton-Merten syndromes

    Unusual cutaneous features associated with a heterozygous gain-of-function mutation in<i>IFIH1</i>: overlap between Aicardi-Goutières and Singleton-Merten syndromes di A.‐C. Bursztejn, Tracy A. Briggs, Yoandris del Toro Duany, Bryan Anderson, James O’Sullivan, Simon G. Williams, Christine Bodemer, Sylvie Fraïtag, Florian Gebhard, Bruno Leheup, I. Lemelle, Anthony Oojageer, Emmanuel Raffo, Emmanuelle Schmitt, Gillian Rice, Sun Hur, Yanick J. Crow

    Pubblicazione 2015
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  3. 3
    Sirolimus (Rapamycin) for Slow-Flow Malformations in Children

    Sirolimus (Rapamycin) for Slow-Flow Malformations in Children di A. Maruani, Elsa Tavernier, O. Boccara, J. Mazereeuw‐Hautier, Sophie Leducq, D. Bessis, Laurent Guibaud, P. Vabres, Virginie Carmignac, S. Mallet, S. Barbarot, C. Chiavérini, C. Droitcourt, A.‐C. Bursztejn, Céline Lengellé, Jean‐Baptiste Woillard, Denis Herbreteau, Anne Le Touze, Aline Joly, C. Léauté‐Labrèze, Julie Powell, Hélène Bourgoin, Valérie Gissot, Bruno Giraudeau, Baptiste Morel

    Pubblicazione 2021
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  4. 4
    Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

    Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation di Maud Jordan, Virginie Carmignac, Arthur Sorlin, Paul Kuentz, Juliette Albuisson, Luca Borradori, E. Bourrat, Odile Boute, Nenad Bukvić, A.‐C. Bursztejn, C. Chiavérini, Bruno Delobel, Marine Fournet, Jehanne Martel, Alice Goldenberg, S. Hadj‐Rabia, A. Mahé, A. Maruani, J. Mazereeuw‐Hautier, Cyril Mignot, Fanny Morice‐Picard, Marie‐Laure Moutard, Florence Petit, Justine Pasteur, Alice Phan, Sandra Whalen, Marjolaine Willems, Christophe Philippe, P. Vabres

    Pubblicazione 2019
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  5. 5
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... di Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Bréhéret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, X. Balguérie, S. Barbarot, Geneviève Baujat, Tawfeg Ben‐Omran, A.‐C. Bursztejn, Virginie Carmignac, Alexandre Datta, A. Delignières, Laurence Faivre, Betty Gardie, Jean‐Louis Guéant, Paul Kuentz, Marion Lenglet, Marie‐Cécile Nassogne, V. Ramaekers, Rhonda E. Schnur, Yue Si, Erin Torti, Julien Thévenon, P. Vabres, Lionel Van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, François Feillet, Bertrand Isidor

    Pubblicazione 2019
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  6. 6
    Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

    Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing di Paul Kuentz, Judith St‐Onge, Yannis Duffourd, Jean‐Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, C. Abasq‐Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attié‐Bitach, Nadia Bahi‐Buisson, S. Barbarot, Geneviève Baujat, D. Bessis, O. Boccara, Maryse Bonnière, Odile Boute, A.‐C. Bursztejn, C. Chiavérini, Valérie Cormier‐Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Geneviève, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie‐Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jéléna Martinovic, A. Maruani, Michèle Mathieu‐Dramard, J. Mazereeuw‐Hautier, Caroline Michot, Cyril Mignot, J. Miquel, Fanny Morice‐Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloès, Marie Vincent, Catherine Vincent‐Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphné Lehalle, Julien Thévenon, Christel Thauvin‐Robinet, S. Hadj‐Rabia, Laurence Faivre, P. Vabres, Jean-Baptiste Rivière

    Pubblicazione 2017
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