Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders von Fokstuen, S, Makrythanasis, P, Hammar, E, Guipponi, M, Ranza, E, Varvagiannis, K, Santoni, F A, Albarca-Aguilera, M, Poleggi, M E, Couchepin, F, Brockmann, C, Mauron, A, Hurst, S A, Moret, C, Gehrig, C, Vannier, A, Bevillard, J, Araud, T, Gimelli, S, Stathaki, E, Paoloni-Giacobino, A, Bottani, A, Sloan-Béna, F, Sizonenko, L D'Amato, Mostafavi, M, Hamamy, H, Nouspikel, T, Blouin, J L, Antonarakis, S E

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Modeling and Experiments of Severe Slugging in a Riser System von Wang, Lin, Li, Yuxing, Liu, Chang, Hu, Qihui, Wang, Yating, Wang, Quan

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A Framework to Measure the Service Quality of Distributor with Fuzzy Graph Theoretic Approach von Gupta, Tarun Kumar, Singh, Vikram

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A Quality Function Deployment (QFD) Approach in Determining the Employer’s Selection Criteria von Muda, Nora, Mat Roji, Noor Sulawati

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WS23.4 Rare CF genotype with severe hepatic failure associated with medium chain acid deficiency (MCAD) in a neonate von Mornand, A, Petit, L.-M, Kern, I, Karam, O, Bottani, A, Barazzone-Argiroffo, C

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Thrombocytopenia-absent radius syndrome: a clinical genetic study von Greenhalgh, K L, Howell, R T, Bottani, A, Ancliff, P J, Brunner, H G, Verschuuren-Bemelmans, C C, Vernon, E, Brown, K W, Newbury-Ecob, R A

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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features von Makrythanasis, P, Moix, I, Gimelli, S, Fluss, J, Aliferis, K, Antonarakis, SE, Morris, MA, Béna, F, Bottani, A

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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations von Luciani, J J, de Mas, P, Depetris, D, Mignon-Ravix, C, Bottani, A, Prieur, M, Jonveaux, P, Philippe, A, Bourrouillou, G, de Martinville, B, Delobel, B, Vallee, L, Croquette, M-F, Mattei, M-G

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Supply Chain Integration in the Manufacturing Firms in Developing Country: An Ethiopian Case Study von Georgise, Fasika Bete, Thoben, Klaus-Dieter, Seifert, Marcus

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An EOQ Model for Phase Inventory with Induced Demand and Periodic Cycle Time von Kumar De, Sujit, Sana, Shib Sankar, Goswami, Adrijit

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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions von Howald, C, Merla, G, Digilio, M C, Amenta, S, Lyle, R, Deutsch, S, Choudhury, U, Bottani, A, Antonarakis, S E, Fryssira, H, Dallapiccola, B, Reymond, A

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Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia – Anauxetic dysplasia spectrum disorder: A coincidental finding? von Garcia-Tarodo, S, Bottani, A, Merlini, L, Kaelin, A, Schwitzgebel, V.M, Parvex, P, Dayer, R, Lascombes, P, Korff, C.M

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The Pressure Relief System Design for Industrial Reactors von Hace, Iztok

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Implementing Lean Practices : Managing the Transformation Risks von Pearce, Antony, Pons, Dirk John

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412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders von Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE

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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia von Gimelli, S, Makrythanasis, P, Stouder, C, Antonarakis, S.E, Bottani, A, Béna, F

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype von Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jacquemont, Marie-Line, Joss, Shelagh, Kinning, Esther, Lynch, Sally Ann, Magee, Alex, McConnell, Vivienne, Medeira, Ana, Ozono, Keiichi, Patton, Michael, Rankin, Julia, Shears, Debbie, Simon, Marleen, Splitt, Miranda, Strenger, Volker, Stuurman, Kyra, Taylor, Clare, Titheradge, Hannah, Van Maldergem, Lionel, Temple, I. Karen, Cole, Trevor, Seal, Sheila, Rahman, Nazneen

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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome von Bubien, Virginie, Bonnet, Françoise, Brouste, Veronique, Hoppe, Stéphanie, Barouk-Simonet, Emmanuelle, David, Albert, Edery, Patrick, Bottani, Armand, Layet, Valérie, Caron, Olivier, Gilbert-Dussardier, Brigitte, Delnatte, Capucine, Dugast, Catherine, Fricker, Jean-Pierre, Bonneau, Dominique, Sevenet, Nicolas, Longy, Michel, Caux, Frédéric, Abramowicz, Marc, Bessis, Didier, Bieth, Eric, Bérard, Valérie Bonadonaon, Bonnetblanc, Jean-Marie, Demange, Liliane, Feillet, François, Frebourg, Thierry, Giraud, Sophie, Giurgea, Irina, Heron, Delphine, Holder, Muriel, Journel, Hubert, Julia, Sophie, Kacem, Maha, Lejeune, Sophie, Leprat, Frédéric, Leroux, Dominique, Lok, Catherine, Lortholary, Alain, Lyonnet, Stanislas, Margueritte, Geneviève, Mauillon, Jacques, Mazereeuw-Hautier, Juliette, Odent, Sylvie, Penet, Clotilde, Philippe, Anne, Plauchu, Henri, Plessismenceau, Ghislaine, Plouvieron, Emmanuel, Richard, Marie-Aleth, Saadi, Abdelkrim, Saurin, Jean-Christophe, Tinat, Julie, Vabres, Pierre, Van Maldergemteil, Lionel, Vennin, Philippe, Weiller, Pierre-Jean

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) von Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C.M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita

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Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts von Giannuzzi, Giuliana, Chatron, Nicolas, Mannik, Katrin, Auwerx, Chiara, Pradervand, Sylvain, Willemin, Gilles, Hoekzema, Kendra, Nuttle, Xander, Chrast, Jacqueline, Sadler, Marie C., Porcu, Eleonora, Herault, Yann, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Eichler, Evan E., Kutalik, Zoltan, Reymond, Alexandre

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