Хайлтын үр дүнгүүд - Labalme, Audrey

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