Hasil Pencarian - Audrey Labalme

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  1. 1
    A novel telomeric (~285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease

    A novel telomeric (~285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease oleh Philippe Joly, Philippe Lacan, Audrey Labalme, Elodie Bonhomme, Damien Sanlaville, Alain Francina

    Diterbitkan 2010-05-01
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  2. 2
    HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype

    HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype oleh Philippe Joly, Caroline Schluth-Bolard, Philippe Lacan, Claire Barro, Serge Pissard, Audrey Labalme, Damien Sanlaville, Catherine Badens

    Diterbitkan 2013-01-01
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  3. 3
    Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

    Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report oleh Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca

    Diterbitkan 2020-01-01
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  4. 4
    Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

    Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia oleh Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella

    Diterbitkan 2024-06-01
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  5. 5
    Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism

    Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism oleh Marie Faoucher, Anne-Lise Poulat, Nicolas Chatron, Audrey Labalme, Caroline Schluth-Bolard, Marianne Till, Christine Vianey-Saban, Vincent Des Portes, Patrick Edery, Damien Sanlaville, Gaëtan Lesca, Cécile Acquaviva

    Diterbitkan 2019-12-01
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  6. 6
    Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

    Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature oleh Amerh Salem Alqahtani, Audrey Putoux, Marie Noelle Bonnet Dupeyron, Maryline Carneiro, Laurence Lion‐Francois, Massimiliano Rossi, Hélène Tevissen, Caroline Schluth Bolard, Audrey Labalme, Gaetan Lesca, Marianne Till, Patrick Edery, Damien Sanlaville

    Diterbitkan 2019-10-01
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  7. 7
    Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes

    Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes oleh Ilaria Mosca, Ilaria Rivolta, Audrey Labalme, Paolo Ambrosino, Barbara Castellotti, Cinzia Gellera, Tiziana Granata, Elena Freri, Anna Binda, Gaetan Lesca, Jacopo C. DiFrancesco, Jacopo C. DiFrancesco, Maria Virginia Soldovieri, Maurizio Taglialatela

    Diterbitkan 2022-06-01
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  8. 8
    Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

    Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. oleh Patrice Roll, Damien Sanlaville, Jennifer Cillario, Audrey Labalme, Nadine Bruneau, Annick Massacrier, Marc Délepine, Philippe Dessen, Vladimir Lazar, Andrée Robaglia-Schlupp, Gaëtan Lesca, Elisabeth Jouve, Gabrielle Rudolf, Jacques Rochette, G Mark Lathrop, Pierre Szepetowski

    Diterbitkan 2010-01-01
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  9. 9
    Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

    Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder oleh Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi

    Diterbitkan 2019-05-01
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  10. 10
    Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

    Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies oleh Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche

    Diterbitkan 2022-10-01
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