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Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. [electronic resource] by
- Béri-Dexheimer, Mylène
- Latger-Cannard, Véronique
- Philippe, Christophe
- Bonnet, Céline
- Chambon, Pascal
- Roth, Virginie
- Grégoire, Marie-José
- Bordigoni, Pierre
- Lecompte, Thomas
- Leheup, Bruno
- Jonveaux, Philippe
Producer: 20080923
In:
European journal of human genetics : EJHG vol. 16
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Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis. [electronic resource] by
- Lecoquierre, François
- Cassinari, Kévin
- Chambon, Pascal
- Nicolas, Gaël
- Malsa, Sarah
- Marlin, Régine
- Assouline, Yvon
- Fléjou, Jean-François
- Frebourg, Thierry
- Houdayer, Claude
- Bera, Odile
- Baert-Desurmont, Stéphanie
Producer: 20201201
In:
European journal of medical genetics vol. 63
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Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly. [electronic resource] by
- Grotto, Sarah
- Drouin-Garraud, Valérie
- Ounap, Katrin
- Puusepp-Benazzouz, Helen
- Schuurs-Hoeijmakers, Janneke
- Le Meur, Nathalie
- Chambon, Pascal
- Fehrenbach, Séverine
- van Bokhoven, Hans
- Frébourg, Thierry
- de Brouwer, Arjan P M
- Saugier-Veber, Pascale
Producer: 20141209
In:
European journal of medical genetics vol. 57
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Autologous Myoblasts for the Treatment of Fecal Incontinence: Results of a Phase 2 Randomized Placebo-controlled Study (MIAS). [electronic resource] by
- Boyer, Olivier
- Bridoux, Valérie
- Giverne, Camille
- Bisson, Aurélie
- Koning, Edith
- Leroi, Anne-Marie
- Chambon, Pascal
- Déhayes, Justine
- Le Corre, Stephanie
- Jacquot, Serge
- Bastit, Dominique
- Martinet, Jérémie
- Houivet, Estelle
- Tuech, Jean-Jacques
- Benichou, Jacques
- Michot, Francis
Producer: 20190117
In:
Annals of surgery vol. 267
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Chromosomal instability but lack of transformation in human myoblast preparations. [electronic resource] by
- Bisson, Aurélie
- Le Corre, Stéphanie
- Joly-Helas, Géraldine
- Chambon, Pascal
- Demoulins, Laetitia
- Jean, Laetitia
- Adriouch, Sahil
- Drouot, Laurent
- Giverne, Camille
- Roussel, Francis
- Jacquot, Serge
- Doucet, Christelle
- Michot, Francis
- Lamacz, Marek
- Frébourg, Thierry
- Flaman, Jean-Michel
- Boyer, Olivier
Producer: 20150915
In:
Cell transplantation vol. 23
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Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma. [electronic resource] by
- Fontanilles, Maxime
- Marguet, Florent
- Ruminy, Philippe
- Basset, Carole
- Noel, Adrien
- Beaussire, Ludivine
- Viennot, Mathieu
- Viailly, Pierre-Julien
- Cassinari, Kevin
- Chambon, Pascal
- Richard, Doriane
- Alexandru, Cristina
- Tennevet, Isabelle
- Langlois, Olivier
- Di Fiore, Frédéric
- Laquerrière, Annie
- Clatot, Florian
- Sarafan-Vasseur, Nasrin
Producer: 20210531
In:
Acta neuropathologica communications vol. 8
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Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation. [electronic resource] by
- Sudrié-Arnaud, Bénédicte
- Marguet, Florent
- Patrier, Sophie
- Martinovic, Jelena
- Louillet, Ferielle
- Broux, Françoise
- Charbonnier, Françoise
- Dranguet, Hélène
- Coutant, Sophie
- Vezain, Myriam
- Lanos, Raphaël
- Tebani, Abdellah
- Fuller, Maria
- Lamari, Foudil
- Chambon, Pascal
- Brehin, Anne-Claire
- Trestard, Laetitia
- Tournier, Isabelle
- Marret, Stéphane
- Verspyck, Eric
- Laquerrière, Annie
- Bekri, Soumeya
Producer: 20180913
In:
Clinica chimica acta; international journal of clinical chemistry vol. 481
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A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations. [electronic resource] by
- Cassinari, Kévin
- Quenez, Olivier
- Joly-Hélas, Géraldine
- Beaussire, Ludivine
- Le Meur, Nathalie
- Castelain, Mathieu
- Goldenberg, Alice
- Guerrot, Anne-Marie
- Brehin, Anne-Claire
- Deleuze, Jean-François
- Boland, Anne
- Rovelet-Lecrux, Anne
- Campion, Dominique
- Saugier-Veber, Pascale
- Gruchy, Nicolas
- Frebourg, Thierry
- Nicolas, Gaël
- Sarafan-Vasseur, Nasrin
- Chambon, Pascal
Producer: 20200522
In:
Clinical chemistry vol. 65
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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study. [electronic resource] by
- Gruchy, Nicolas
- Blondeel, Eleonore
- Le Meur, Nathalie
- Joly-Hélas, Géraldine
- Chambon, Pascal
- Till, Marianne
- Herbaux, Martine
- Vigouroux-Castera, Adeline
- Coussement, Aurélie
- Lespinasse, James
- Amblard, Florence
- Jimenez Pocquet, Mélanie
- Lebel-Roy, Camille
- Carré-Pigeon, Frédérique
- Flori, Elisabeth
- Mugneret, Francine
- Jaillard, Sylvie
- Yardin, Catherine
- Harbuz, Radu
- Collonge-Rame, Marie-Agnès
- Vago, Philippe
- Valduga, Mylène
- Leporrier, Nathalie
- Vialard, François
Producer: 20170306
In:
Prenatal diagnosis vol. 36
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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. [electronic resource] by
- Husson, Thomas
- Lecoquierre, François
- Cassinari, Kevin
- Charbonnier, Camille
- Quenez, Olivier
- Goldenberg, Alice
- Guerrot, Anne-Marie
- Richard, Anne-Claire
- Drouin-Garraud, Valérie
- Brehin, Anne-Claire
- Soleimani, Maryam
- Taton, Romain
- Rotharmel, Maud
- Rosier, Antoine
- Chambon, Pascal
- Le Meur, Nathalie
- Joly-Helas, Géraldine
- Saugier-Veber, Pascale
- Boland, Anne
- Deleuze, Jean-François
- Olaso, Robert
- Frebourg, Thierry
- Nicolas, Gael
- Guillin, Olivier
- Campion, Dominique
Producer: 20210618
In:
Translational psychiatry vol. 10
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A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability. [electronic resource] by
- Mosca-Boidron, Anne-Laure
- Gueneau, Lucie
- Huguet, Guillaume
- Goldenberg, Alice
- Henry, Céline
- Gigot, Nadège
- Pallesi-Pocachard, Emilie
- Falace, Antonio
- Duplomb, Laurence
- Thevenon, Julien
- Duffourd, Yannis
- St-Onge, Judith
- Chambon, Pascal
- Rivière, Jean-Baptiste
- Thauvin-Robinet, Christel
- Callier, Patrick
- Marle, Nathalie
- Payet, Muriel
- Ragon, Clemence
- Goubran Botros, Hany
- Buratti, Julien
- Calderari, Sophie
- Dumas, Guillaume
- Delorme, Richard
- Lagarde, Nathalie
- Pinoit, Jean-Michel
- Rosier, Antoine
- Masurel-Paulet, Alice
- Cardoso, Carlos
- Mugneret, Francine
- Saugier-Veber, Pascale
- Campion, Dominique
- Faivre, Laurence
- Bourgeron, Thomas
Producer: 20170726
In:
European journal of human genetics : EJHG vol. 24
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. [electronic resource] by
- Gabriele, Michele
- Vulto-van Silfhout, Anneke T
- Germain, Pierre-Luc
- Vitriolo, Alessandro
- Kumar, Raman
- Douglas, Evelyn
- Haan, Eric
- Kosaki, Kenjiro
- Takenouchi, Toshiki
- Rauch, Anita
- Steindl, Katharina
- Frengen, Eirik
- Misceo, Doriana
- Pedurupillay, Christeen Ramane J
- Stromme, Petter
- Rosenfeld, Jill A
- Shao, Yunru
- Craigen, William J
- Schaaf, Christian P
- Rodriguez-Buritica, David
- Farach, Laura
- Friedman, Jennifer
- Thulin, Perla
- McLean, Scott D
- Nugent, Kimberly M
- Morton, Jenny
- Nicholl, Jillian
- Andrieux, Joris
- Stray-Pedersen, Asbjørg
- Chambon, Pascal
- Patrier, Sophie
- Lynch, Sally A
- Kjaergaard, Susanne
- Tørring, Pernille M
- Brasch-Andersen, Charlotte
- Ronan, Anne
- van Haeringen, Arie
- Anderson, Peter J
- Powis, Zöe
- Brunner, Han G
- Pfundt, Rolph
- Schuurs-Hoeijmakers, Janneke H M
- van Bon, Bregje W M
- Lelieveld, Stefan
- Gilissen, Christian
- Nillesen, Willy M
- Vissers, Lisenka E L M
- Gecz, Jozef
- Koolen, David A
- Testa, Giuseppe
- de Vries, Bert B A
Producer: 20170731
In:
American journal of human genetics vol. 100
Availability: No items available.
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