Hasil Pencarian - Sandra Chantot-Bastaraud

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  1. 1
    Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

    Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion oleh Eloïse Giabicani, Sandra Chantot-Bastaraud, Sandra Chantot-Bastaraud, Adeline Bonnard, Myriam Rachid, Sandra Whalen, Irène Netchine, Frédéric Brioude

    Diterbitkan 2019-04-01
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  2. 2
    When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

    When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20 oleh Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou, Anne-Claire Bréhin

    Diterbitkan 2021-05-01
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  3. 3
    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction oleh Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann

    Diterbitkan 2017-07-01
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  4. 4
    Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness

    Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness oleh Cora Cravero, Vincent Guinchat, Jean Xavier, Camille Meunier, Lautaro Diaz, Cyril Mignot, Diane Doummar, Sandra Chantot-Bastaraud, Angèle Consoli, David Cohen

    Diterbitkan 2017-01-01
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  5. 5
    Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

    Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. oleh Celia Ravel, Sandra Chantot-Bastaraud, Clementine Chalmey, Luis Barreiro, Isabelle Aknin-Seifer, Jerome Pfeffer, Isabelle Berthaut, E Emmanuelle Mathieu, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Ken McElreavey, Anu Bashamboo

    Diterbitkan 2009-01-01
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  6. 6
    Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

    Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy oleh Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Estivalet, Frédéric Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Léveillard, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo

    Diterbitkan 2021-07-01
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