نتائج البحث - Labalme, Audrey

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

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Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome حسب Leutenegger, Anne-Louise, Labalme, Audrey, Génin, Emmanuelle, Toutain, Annick, Steichen, Elisabeth, Clerget-Darpoux, Françoise, Edery, Patrick

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Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation حسب Ben Khelifa, Hela, Soyah, Najla, Labalme, Audrey, Guilbert, Helene, Sanlaville, Damien, Saad, Ali, Mougou-Zerelli, Soumaya

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

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

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Molecular cytogenetic and phenotypic characterization of ring chromosome 13 in three unrelated patients حسب Abdallah-Bouhjar, Inesse B., Mougou-Zerelli, Soumaya, Hannachi, Hanene, Gmidène, Abir, Labalme, Audrey, Soyah, Najla, Sanlaville, Damien, Saad, Ali, Elghezal, Hatem

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Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy حسب Rossi, Massimiliano, Chatron, Nicolas, Labalme, Audrey, Ville, Dorothée, Carneiro, Maryline, Edery, Patrick, des Portes, Vincent, Lemke, Johannes R, Sanlaville, Damien, Lesca, Gaetan

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New disease gene location and high genetic heterogeneity in idiopathic scoliosis حسب Edery, Patrick, Margaritte-Jeannin, Patricia, Biot, Bernard, Labalme, Audrey, Bernard, Jean-Claude, Chastang, Joëlle, Kassai, Behrouz, Plais, Marie-Helene, Moldovan, Florina, Clerget-Darpoux, Francoise

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Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1 حسب Chatron, Nicolas, Thibault, Lucie, Lespinasse, James, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Edery, Patrick, Touraine, Renaud, des Portes, Vincent, Lesca, Gaetan, Sanlaville, Damien

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Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations حسب Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, Rossi, Massimiliano

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

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

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Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing حسب Pons, Linda, Bouvagnet, Patrice, Bakloul, Mohamed, Di Filippo, Sylvie, Buisson, Adrien, Chatron, Nicolas, Labalme, Audrey, Metton, Olivier, Mitchell, Julia, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanlaville, Damien, Schluth-Bolard, Caroline

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

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Infantile Convulsions with Paroxysmal Dyskinesia (ICCA Syndrome) and Copy Number Variation at Human Chromosome 16p11 حسب Roll, Patrice, Sanlaville, Damien, Cillario, Jennifer, Labalme, Audrey, Bruneau, Nadine, Massacrier, Annick, Délepine, Marc, Dessen, Philippe, Lazar, Vladimir, Robaglia-Schlupp, Andrée, Lesca, Gaëtan, Jouve, Elisabeth, Rudolf, Gabrielle, Rochette, Jacques, Lathrop, G. Mark, Szepetowski, Pierre

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Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy حسب Nappi, Mario, Barrese, Vincenzo, Carotenuto, Lidia, Lesca, Gaetan, Labalme, Audrey, Ville, Dorothee, Smol, Thomas, Rama, Mélanie, Dieux-Coeslier, Anne, Rivier-Ringenbach, Clotilde, Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Pusch, Michael, Miceli, Francesco, Taglialatela, Maurizio

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

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West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 حسب Alfaiz, Ali Abdullah, Müller, Verena, Boutry-Kryza, Nadia, Ville, Dorothée, Guex, Nicolas, de Bellescize, Julitta, Rivier, Clotilde, Labalme, Audrey, des Portes, Vincent, Edery, Patrick, Till, Marianne, Xenarios, Ioannis, Sanlaville, Damien, Herrmann, Johannes M, Lesca, Gaétan, Reymond, Alexandre

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Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA حسب Dimassi, Sarra, Simonet, Thomas, Labalme, Audrey, Boutry-Kryza, Nadia, Campan-Fournier, Amandine, Lamy, Raphaelle, Bardel, Claire, Elsensohn, Mad-Hélénie, Roucher-Boulez, Florence, Chatron, Nicolas, Putoux, Audrey, de Bellescize, Julitta, Ville, Dorothée, Schaeffer, Laurent, Roy, Pascal, Mougou-Zerelli, Soumaya, Saad, Ali, Calender, Alain, Sanlaville, Damien, Lesca, Gaetan

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The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant حسب Chatron, Nicolas, Møller, Rikke S., Champaigne, Neena L., Schneider MGenCouns, Amy L., Kuechler, Alma, Labalme, Audrey, Simonet, Thomas, Baggett, Lauren, Bardel, Claire, Kamsteeg, Erik-Jan, Pfundt, Rolph, Romano, Corrado, Aronsson, Johan, Alberti, Antonino, Vinci, Mirella, Miranda, Maria J., Lacroix, Amy, Marjanovic, Dragan, des Portes, Vincent, Edery, Patrick, Wieczorek, Dagmar, Gardella, Elena, Scheffer, Ingrid E., Mefford, Heather, Sanlaville, Damien, Carvill, Gemma L., Lesca, Gaetan

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