Search Results - Ghesh, Leila

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  1. 1
    Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature

    Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature by Ghesh, Leila, Vincent, Marie, Delemazure, Anne‐Sophie, Boyer, Julie, Corre, Pierre, Perez, Fabienne, Geneviève, David, Laplanche, Jean‐Louis, Collet, Corinne, Isidor, Bertrand

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  2. 2
    Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems

    Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems by Huynh, Minh-Tuan, Gérard, Marion, Ranguin, Kara, Pichon, Olivier, Ghesh, Leila, Alfallaj, Khalid, Joubert, Madeleine, Bézieau, Stéphane, Bénéteau, Claire

    Published in Neurogenetics
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  3. 3
    A Gardos channelopathy associated with nonimmune hydrops and fetal loss

    A Gardos channelopathy associated with nonimmune hydrops and fetal loss by Ghesh, Leïla, Besnard, Thomas, Joubert, Madeleine, Picard, Véronique, Le Vaillant, Claudine, Beneteau, Claire

    Published in Clinical genetics
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  4. 4
    Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype

    Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype by Jury, Jeanne, Joubert, Madeleine, Le Vaillant, Claudine, Ghesh, Leïla, Séguéla, Pierre‐Emmanuel, Bruel, Ange‐Line, Cogné, Benjamin, Nizon, Mathilde

    Published in Prenatal diagnosis
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  5. 5
    Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis

    Perinatal presentations of non‐immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis by Ghesh, Leïla, Désir, Julie, Haye, Damien, Le Tanno, Pauline, Devillard, Françoise, Cogné, Benjamin, Marangoni, Martina, Tecco, Laura, Heron, Delphine, Le Vaillant, Claudine, Joubert, Madeleine, Beneteau, Claire

    Published in Clinical genetics
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  6. 6
    The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome

    The first two non‐Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome by Ghesh, Leïla, Musquer, Marie Denis, Devisme, Louise, Stichelbout, Morgane, Boutaud, Lucile, Elkhartoufi, Nadia, Vaast, Pascal, Boute, Odile, Riteau, Anne‐Sophie, Le Vaillant, Claudine, Winer, Norbert, Joubert, Madeleine, Bezieau, Stéphane, Thomas, Sophie, Attie‐Bitach, Tania, Beneteau, Claire

    Published in Clinical genetics
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  7. 7
    Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems

    Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems by Huynh, Minh-Tuan, Beneteau, Claire, Marion, Gerard, Ranguin, Kara, Ghesh, Leila, Alfallaj, Khalid, Pichon, Olivier, Joubert, Madeleine, Bezieau, Stéphane

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  8. 8
    eP347 - Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems

    eP347 - Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems by Huynh, Minh-Tuan, Beneteau, Claire, Marion, Gerard, Ranguin, Kara, Ghesh, Leila, Alfallaj, Khalid, Pichon, Olivier, Joubert, Madeleine, Bezieau, Stéphane

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  9. 9
    Autosomal recessive Treacher Collins syndrome due to \textitPOLR1C mutations: Report of a new family and review of the literature

    Autosomal recessive Treacher Collins syndrome due to \textitPOLR1C mutations: Report of a new family and review of the literature by Ghesh, Leila, Vincent, Marie, Delemazure, Anne-Sophie, Boyer, Julie, Corre, Pierre, Perez, Fabienne, Geneviève, David, Laplanche, Jean-Louis, Collet, Corinne, Isidor, Bertrand

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