Determination of Tortuosity Using Impedance Spectra Analysis of Symmetric Cell
Malifarge, Simon, Delobel, Bruno, Delacourt, Charles
Published in Journal of the Electrochemical Society (01.01.2017)
Published in Journal of the Electrochemical Society (01.01.2017)
Get full text
Journal Article
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Pennamen, Perrine, Le, Linh, Tingaud-Sequeira, Angèle, Fiore, Mathieu, Bauters, Anne, Van Duong Béatrice, Nguyen, Coste, Valentine, Bordet, Jean-Claude, Plaisant, Claudio, Diallo, Modibo, Michaud, Vincent, Trimouille, Aurélien, Lacombe, Didier, Lasseaux, Eulalie, Delevoye, Cédric, Picard, Fanny Morice, Delobel, Bruno, Marks, Michael S., Arveiler, Benoit
Published in Genetics in medicine (01.10.2020)
Published in Genetics in medicine (01.10.2020)
Get full text
Journal Article
The electrode tortuosity factor: why the conventional tortuosity factor is not well suited for quantifying transport in porous Li-ion battery electrodes and what to use instead
Tuan-Tu, Nguyen, Demortière Arnaud, Fleutot Benoit, Delobel Bruno, Delacourt, Charles, Cooper, Samuel J
Published in npj computational materials (14.08.2020)
Published in npj computational materials (14.08.2020)
Get full text
Journal Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
Arnaud, Pauline, Racine, Caroline, Hanna, Nadine, Thevenon, Julien, Alessandri, Jean-Luc, Bonneau, Dominique, Clayton-Smith, Jill, Coubes, Christine, Delobel, Bruno, Dupuis-Girod, Sophie, Gouya, Laurent, Odent, Sylvie, Carmignac, Virginie, Thauvin-Robinet, Christel, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Faivre, Laurence
Published in Human genetics (01.04.2020)
Published in Human genetics (01.04.2020)
Get full text
Journal Article
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype
Micol, Romain, MD, MPH, PhD, Ben Slama, Lilia, PhD, Suarez, Felipe, MD, PhD, Le Mignot, Loïc, MSc, Beauté, Julien, MD, MSc, Mahlaoui, Nizar, MD, MSc, Dubois d’Enghien, Catherine, BSc, Laugé, Anthony, BSc, Hall, Janet, PhD, Couturier, Jérôme, MD, Vallée, Louis, MD, Delobel, Bruno, MD, Rivier, François, MD, PhD, Nguyen, Karine, MD, Billette de Villemeur, Thierry, MD, Stephan, Jean-Louis, MD, Bordigoni, Pierre, MD, Bertrand, Yves, MD, Aladjidi, Nathalie, MD, Pedespan, Jean-Michel, MD, Thomas, Caroline, MD, Pellier, Isabelle, MD, MSc, Koenig, Michel, MD, PhD, Hermine, Olivier, MD, PhD, Picard, Capucine, MD, PhD, Moshous, Despina, MD, PhD, Neven, Bénédicte, MD, PhD, Lanternier, Fanny, MD, Blanche, Stéphane, MD, Tardieu, Marc, MD, PhD, Debré, Marianne, MD, Fischer, Alain, MD, PhD, Stoppa-Lyonnet, Dominique, MD, PhD
Published in Journal of allergy and clinical immunology (01.08.2011)
Published in Journal of allergy and clinical immunology (01.08.2011)
Get full text
Journal Article
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Bonnet, Crystel, Grati, M'hamed, Marlin, Sandrine, Levilliers, Jacqueline, Hardelin, Jean-Pierre, Parodi, Marine, Niasme-Grare, Magali, Zelenika, Diana, Délépine, Marc, Feldmann, Delphine, Jonard, Laurence, El-Amraoui, Aziz, Weil, Dominique, Delobel, Bruno, Vincent, Christophe, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Vigneron, Jacqueline, Montaut-Verient, Bettina, Bonneau, Dominique, Dubin, Jacques, Thauvin, Christel, Duvillard, Alain, Francannet, Christine, Mom, Thierry, Lacombe, Didier, Duriez, Françoise, Drouin-Garraud, Valérie, Thuillier-Obstoy, Marie-Françoise, Sigaudy, Sabine, Frances, Anne-Marie, Collignon, Patrick, Challe, Georges, Couderc, Rémy, Lathrop, Mark, Sahel, José-Alain, Weissenbach, Jean, Petit, Christine, Denoyelle, Françoise
Published in Orphanet journal of rare diseases (11.05.2011)
Published in Orphanet journal of rare diseases (11.05.2011)
Get full text
Journal Article
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
El Khattabi, Laïla, Guimiot, Fabien, Pipiras, Eva, Andrieux, Joris, Baumann, Clarisse, Bouquillon, Sonia, Delezoide, Anne-Lise, Delobel, Bruno, Demurger, Florence, Dessuant, Hélène, Drunat, Séverine, Dubourg, Christelle, Dupont, Céline, Faivre, Laurence, Holder-Espinasse, Muriel, Jaillard, Sylvie, Journel, Hubert, Lyonnet, Stanislas, Malan, Valérie, Masurel, Alice, Marle, Nathalie, Missirian, Chantal, Moerman, Alexandre, Moncla, Anne, Odent, Sylvie, Palumbo, Orazio, Palumbo, Pietro, Ravel, Aimé, Romana, Serge, Tabet, Anne-Claude, Valduga, Mylène, Vermelle, Marie, Carella, Massimo, Dupont, Jean-Michel, Verloes, Alain, Benzacken, Brigitte, Delahaye, Andrée
Published in European journal of human genetics : EJHG (01.08.2015)
Published in European journal of human genetics : EJHG (01.08.2015)
Get full text
Journal Article
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
Schluth-Bolard, Caroline, Delobel, Bruno, Sanlaville, Damien, Boute, Odile, Cuisset, Jean-Marie, Sukno, Sylvie, Labalme, Audrey, Duban-Bedu, Bénédicte, Plessis, Ghislaine, Jaillard, Sylvie, Dubourg, Christèle, Henry, Catherine, Lucas, Josette, Odent, Sylvie, Pasquier, Laurent, Copin, Henri, Latour, Philippe, Cordier, Marie-Pierre, Nadeau, Gwenaël, Till, Marianne, Edery, Patrick, Andrieux, Joris
Published in European journal of medical genetics (01.09.2009)
Published in European journal of medical genetics (01.09.2009)
Get full text
Journal Article
CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability
Montagne, Louise, Derhourhi, Mehdi, Piton, Amélie, Toussaint, Bénédicte, Durand, Emmanuelle, Vaillant, Emmanuel, Thuillier, Dorothée, Gaget, Stefan, De Graeve, Franck, Rabearivelo, Iandry, Lansiaux, Amélie, Lenne, Bruno, Sukno, Sylvie, Desailloud, Rachel, Cnop, Miriam, Nicolescu, Ramona, Cohen, Lior, Zagury, Jean-François, Amouyal, Mélanie, Weill, Jacques, Muller, Jean, Sand, Olivier, Delobel, Bruno, Froguel, Philippe, Bonnefond, Amélie
Published in Molecular metabolism (Germany) (01.07.2018)
Published in Molecular metabolism (Germany) (01.07.2018)
Get full text
Journal Article
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
Linhares, Natália Duarte, Freire, Maíra Cristina Menezes, Cardenas, Raony Guimarães Corrêa do Carmo Lisboa, Pena, Heloisa Barbosa, Lachlan, Katherine, Dallapiccola, Bruno, Bacino, Carlos, Delobel, Bruno, James, Paul, Thuresson, Ann-Charlotte, Annerén, Göran, Pena, Sérgio D J
Published in Genetics and molecular biology (01.07.2016)
Published in Genetics and molecular biology (01.07.2016)
Get full text
Journal Article
Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH
Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie‐Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco‐Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier‐Hanu, Sylvie, Holder‐Espinasse, Muriel
Published in American journal of medical genetics. Part A (01.12.2009)
Published in American journal of medical genetics. Part A (01.12.2009)
Get full text
Journal Article
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations
MIGNON-RAVIX, Cécile, DEPETRIS, Danielle, KROISEL, Peter M, MATTEI, Marie-Geneviève, LUCIANI, Judith J, CUOCO, Cristina, KRAJEWSKA-WALASEK, Malgorzata, MISSIRIAN, Chantal, COLLIGNON, Patrick, DELOBEL, Bruno, CROQUETTE, Marie-Francoise, MONCLA, Anne
Published in European journal of human genetics : EJHG (01.04.2007)
Published in European journal of human genetics : EJHG (01.04.2007)
Get full text
Journal Article
Molecular cytogenetic analysis by genomic hybridization to determine the cause of recurrent miscarriage
Perrin, Aurore, Ph.D, Delobel, Bruno, M.D, Andrieux, Joris, M.D., Ph.D, Gosset, Philippe, M.D, Gueganic, Nadia, B.Sc, Petit, Florence, M.D, De Braekeleer, Marc, M.D., Ph.D, Morel, Frédéric, Ph.D
Published in Fertility and sterility (01.04.2010)
Published in Fertility and sterility (01.04.2010)
Get full text
Journal Article
High reactivity of the nickel-rich LiNi1-x-yMnxCoyO2 layered materials surface towards H2O/CO2 atmosphere and LiPF6-based electrolyte
Martinez, Ana Cristina, Grugeon, Sylvie, Cailleu, Dominique, Courty, Matthieu, Tran-Van, Pierre, Delobel, Bruno, Laruelle, Stephane
Published in Journal of power sources (31.08.2020)
Published in Journal of power sources (31.08.2020)
Get full text
Journal Article