Søgeresultater - Isidor, Bertrand

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series af Vincent, Marie, Benbrik, Nadir, Romefort, Bénédicte, Colombel, Agnès, Bézieau, Stéphane, Isidor, Bertrand

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Population genetic screening: current issues in a European country af Pasquier, Laurent, Isidor, Bertrand, Rial-Sebbag, Emmanuelle, Odent, Sylvie, Minguet, Guy, Moutel, Grégoire

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Expanding the Spectrum of PMM2-CDG Phenotype af Vuillaumier-Barrot, Sandrine, Isidor, Bertrand, Dupré, Thierry, Le Bizec, Christiane, David, Albert, Seta, Nathalie

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Ribosomopathies: New Therapeutic Perspectives af Orgebin, Emilien, Lamoureux, François, Isidor, Bertrand, Charrier, Céline, Ory, Benjamin, Lézot, Frédéric, Baud’huin, Marc

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Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability af Lovrecic, Luca, Gnan, Chiara, Baldan, Federica, Franzoni, Alessandra, Bertok, Sara, Damante, Giuseppe, Isidor, Bertrand, Peterlin, Borut

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Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability af Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn

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Duplications at 19q13.33 in patients with neurodevelopmental disorders af Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis

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Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders af Vincent, Marie, Karolak, Justyna A., Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł

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First French study relative to preconception genetic testing: 1500 general population participants’ opinion af Bonneau, Valérie, Nizon, Mathilde, Latypova, Xenia, Gaultier, Aurélie, Hoarau, Eugénie, Bézieau, Stéphane, Minguet, Guy, Turrini, Mauro, Jourdain, Maud, Isidor, Bertrand

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Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review af Dalla-Torre, Romain, Crenn, Vincent, Menu, Pierre, Isidor, Bertrand, Guillot, Pascale, Le Goff, Benoit, Geffroy, Loic, Dauty, Marc, Fouasson-Chailloux, Alban

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Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q af Kantaputra, Piranit N, Klopocki, Eva, Hennig, Bianca P, Praphanphoj, Verayuth, Le Caignec, Cédric, Isidor, Bertrand, Kwee, Mei L, Shears, Deborah J, Mundlos, Stefan

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Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome af Carapito, Raphael, Goldenberg, Alice, Paul, Nicodème, Pichot, Angélique, David, Albert, Hamel, Antoine, Dumant-Forest, Clémentine, Leroux, Julien, Ory, Benjamin, Isidor, Bertrand, Bahram, Seiamak

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Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss af Mansard, Luke, Vaché, Christel, Bianchi, Julie, Baudoin, Corinne, Perthus, Isabelle, Isidor, Bertrand, Blanchet, Catherine, Baux, David, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise

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Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1 af Garrity, Madison, Kavus, Haluk, Rojas-Vasquez, Marta, Valenzuela, Irene, Larson, Austin, Reed, Sara, Bellus, Gary, Mignot, Cyril, Munnich, Arnold, Isidor, Bertrand, Chung, Wendy K.

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Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region af Vallat, Jean-Michel, Nizon, Mathilde, Magee, Alex, Isidor, Bertrand, Magy, Laurent, Péréon, Yann, Richard, Laurence, Ouvrier, Robert, Cogné, Benjamin, Devaux, Jérôme, Zuchner, Stephan, Mathis, Stéphane

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Expanding the phenotype of HNRNPU ‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature af Taylor, James, Spiller, Michael, Ranguin, Kara, Vitobello, Antonio, Philippe, Christophe, Bruel, Ange‐Line, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Willems, Marjolaine, Isidor, Bertrand, Park, Kristen, Balasubramanian, Meena

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Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain af Le Gloan, Laurianne, Hauet, Quentin, David, Albert, Hanna, Nadine, Arfeuille, Chloé, Arnaud, Pauline, Boileau, Catherine, Romefort, Bénédicte, Benbrik, Nadir, Gournay, Véronique, Joram, Nicolas, Baron, Olivier, Isidor, Bertrand

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Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes af Collet, Corinne, Ostertag, Agnès, Ricquebourg, Manon, Delecourt, Marine, Tueur, Giulia, Isidor, Bertrand, Guillot, Pascale, Schaefer, Elise, Javier, Rose‐Marie, Funck‐Brentano, Thomas, Orcel, Philippe, Laplanche, Jean‐Louis, Cohen‐Solal, Martine

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MAN1B1-CDG: Three new individuals and associated biochemical profiles af Sakhi, Soraya, Cholet, Sophie, Wehbi, Samer, Isidor, Bertrand, Cogne, Benjamin, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Detleft, Trost, Schmitt, Emmanuelle, Leheup, Bruno, Bonnet, Céline, Feillet, François, Muti, Christine, Fenaille, François, Bruneel, Arnaud

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Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome af van Rahden, Vanessa A, Rau, Isabella, Fuchs, Sigrid, Kosyna, Friederike K, de Almeida, Hiram Larangeira, Fryssira, Helen, Isidor, Bertrand, Jauch, Anna, Joubert, Madeleine, Lachmeijer, Augusta M A, Zweier, Christiane, Moog, Ute, Kutsche, Kerstin

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