Heat with a non-originally associated loop. Did Sweden (?), end of the 16th century, blame Peter Münnich, Solingen 1672-1697 von Peter Munnich, anonymous swordfeeder, Peter Munnich (Tillverkare, , ), anonym svärdfejare (Tillverkare, , )

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Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence von Benko, Sabina, Fantes, Judy A, Amiel, Jeanne, Kleinjan, Dirk-Jan, Thomas, Sophie, Ramsay, Jacqueline, Jamshidi, Negar, Essafi, Abdelkader, Heaney, Simon, Gordon, Christopher T, McBride, David, Golzio, Christelle, Fisher, Malcolm, Perry, Paul, Abadie, Véronique, Ayuso, Carmen, Holder-Espinasse, Muriel, Kilpatrick, Nicky, Lees, Melissa M, Picard, Arnaud, Temple, I Karen, Thomas, Paul, Vazquez, Marie-Paule, Vekemans, Michel, Crollius, Hugues Roest, Hastie, Nicholas D, Munnich, Arnold, Etchevers, Heather C, Pelet, Anna, Farlie, Peter G, FitzPatrick, David R, Lyonnet, Stanislas

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Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears von Gordon, Christopher T., Petit, Florence, Kroisel, Peter M., Jakobsen, Linda, Zechi-Ceide, Roseli Maria, Oufadem, Myriam, Bole-Feysot, Christine, Pruvost, Solenn, Masson, Cécile, Tores, Frédéric, Hieu, Thierry, Nitschké, Patrick, Lindholm, Pernille, Pellerin, Philippe, Guion-Almeida, Maria Leine, Kokitsu-Nakata, Nancy Mizue, Vendramini-Pittoli, Siulan, Munnich, Arnold, Lyonnet, Stanislas, Holder-Espinasse, Muriel, Amiel, Jeanne

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Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis von Valianpour, Fredoen, Mitsakos, Voula, Schlemmer, Dimitri, Towbin, Jeffrey A, Taylor, Juliet M, Ekert, Paul G, Thorburn, David R, Munnich, Arnold, Wanders, Ronald J. A, Barth, Peter G, Vaz, Frédéric M

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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome von Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo, Afawi, Zaid, Pendziwiat, Manuela, Abu-Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise, Krawitz, Peter M.

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A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium von Thomas, Sophie, Wright, Kevin J., Corre, Stéphanie Le, Micalizzi, Alessia, Romani, Marta, Abhyankar, Avinash, Saada, Julien, Perrault, Isabelle, Amiel, Jeanne, Litzler, Julie, Filhol, Emilie, Elkhartoufi, Nadia, Kwong, Mandy, Casanova, Jean-Laurent, Boddaert, Nathalie, Baehr, Wolfgang, Lyonnet, Stanislas, Munnich, Arnold, Burglen, Lydie, Chassaing, Nicolas, Encha-Ravazi, Ferechté, Vekemans, Michel, Gleeson, Joseph G., Valente, Enza Maria, Jackson, Peter K., Drummond, Iain A., Saunier, Sophie, Attié-Bitach, Tania

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Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation von Molinari, Florence, Rio, Marlène, Meskenaite, Virginia, Encha-Razavi, Férechté, Augé, Joelle, Bacq, Delphine, Briault, Sylvain, Vekemans, Michel, Munnich, Arnold, Attié-Bitach, Tania, Sonderegger, Peter, Colleaux, Laurence

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Identification of mutations in CUL7 in 3-M syndrome von Huber, Céline, Dias-Santagata, Dora, Glaser, Anna, O'Sullivan, James, Brauner, Raja, Wu, Kenneth, Xu, Xinsong, Pearce, Kerra, Wang, Rong, Uzielli, Maria Luisa Giovannucci, Dagoneau, Nathalie, Chemaitilly, Wassim, Superti-Furga, Andrea, Santos, Heloisa Dos, Mégarbané, André, Morin, Gilles, Gillessen-Kaesbach, Gabriele, Hennekam, Raoul, Burgt, Ineke Van der, Black, Graeme C M, Clayton, Peter E, Read, Andrew, Merrer, Martine Le, Scambler, Peter J, Munnich, Arnold, Pan, Zhen-Qiang, Winter, Robin, Cormier-Daire, Valérie

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eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation von Borck, Guntram, Shin, Byung-Sik, Stiller, Barbara, Mimouni-Bloch, Aviva, Thiele, Holger, Kim, Joo-Ran, Thakur, Meghna, Skinner, Cindy, Aschenbach, Lara, Smirin-Yosef, Pola, Har-Zahav, Adi, Nürnberg, Gudrun, Altmüller, Janine, Frommolt, Peter, Hofmann, Kay, Konen, Osnat, Nürnberg, Peter, Munnich, Arnold, Schwartz, Charles E., Gothelf, Doron, Colleaux, Laurence, Dever, Thomas E., Kubisch, Christian, Basel-Vanagaite, Lina

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The 1‐Megapixel pnCCD detector for the Small Quantum Systems Instrument at the European XFEL: system and operation aspects von Kuster, Markus, Ahmed, Karim, Ballak, Kai-Erik, Danilevski, Cyril, Ekmedžić, Marko, Fernandes, Bruno, Gessler, Patrick, Hartmann, Robert, Hauf, Steffen, Holl, Peter, Meyer, Michael, Montaño, Jacobo, Münnich, Astrid, Ovcharenko, Yevheniy, Rennhack, Nils, Rüter, Tonn, Rupp, Daniela, Schlosser, Dieter, Setoodehnia, Kiana, Schmitt, Rüdiger, Strüder, Lothar, Tanyag, Rico Mayro P., Ulmer, Anatoli, Yousef, Hazem

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Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome von Karmous-Benailly, Houda, Martinovic, Jelena, Gubler, Marie-Claire, Sirot, Yoann, Clech, Laure, Ozilou, Catherine, Augé, Joëlle, Brahimi, Nora, Etchevers, Heather, Detrait, Eric, Esculpavit, Chantal, Audollent, Sophie, Goudefroye, Géraldine, Gonzales, Marie, Tantau, Julia, Loget, Philippe, Joubert, Madeleine, Gaillard, Dominique, Jeanne-Pasquier, Corinne, Delezoide, Anne-Lise, Peter, Marie-Odile, Plessis, Ghislaine, Simon-Bouy, Brigitte, Dollfus, Hélène, Le Merrer, Martine, Munnich, Arnold, Encha-Razavi, Férechté, Vekemans, Michel, Attié-Bitach, Tania

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Myhre and LAPS syndromes: clinical and molecular review of 32 patients von Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marlène, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

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Double-hit separation and dE/dx resolution of a time projection chamber with GEM readout von Aoki, Y., Attié, D., Behnke, T., Bellerive, A., Bezshyyko, O., Bhattacharya, D.S., Bhattacharya, P., Bhattacharya, S., Chang, Y., Colas, P., De Lentdecker, G., Dehmelt, K., Desch, K., Diener, R., Dixit, M., Einhaus, U., Fedorchuk, O., Fleck, I., Fujii, K., Fusayasu, T., Ganjour, S., Gros, P., Hayman, P., Ikematsu, K., Jönsson, L., Kaminski, J., Kato, Y., Kleinwort, C., Kluit, P.M., Kobayashi, M., Krämer, U., Lundberg, B., Lupberger, M., Majumdar, N., Malek, P., Matsuda, T., Mjörnmark, U., Mukhopadhyay, S., Müller, F., Münnich, A., Nakajima, J., Narita, S., Negishi, K., Ogawa, T., Oskarsson, A., Österman, L., Peterson, D., Qi, H., Riallot, M., Rosemann, C., Roth, S., Schade, P., Schäfer, O., Settles, R.D., Shirazi, A.N., Shoji, A., Smirnova, O., Sugiyama, A., Takahashi, T., Timmermans, J., Titov, M., Tsionou, D., Vauth, A., Watanabe, T., Werthenbach, U., Wu, M., Yang, Y., Yonamine, R., Yuan, Z., Yumino, K., Zhang, F.

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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations von Mercier, Sandra, Küry, Sébastien, Salort-Campana, Emmanuelle, Magot, Armelle, Agbim, Uchenna, Besnard, Thomas, Bodak, Nathalie, Bou-Hanna, Chantal, Bréhéret, Flora, Brunelle, Perrine, Caillon, Florence, Chabrol, Brigitte, Cormier-Daire, Valérie, David, Albert, Eymard, Bruno, Faivre, Laurence, Figarella-Branger, Dominique, Fleurence, Emmanuelle, Ganapathi, Mythily, Gherardi, Romain, Goldenberg, Alice, Hamel, Antoine, Igual, Jeanine, Irvine, Alan D, Israël-Biet, Dominique, Kannengiesser, Caroline, Laboisse, Christian, Le Caignec, Cédric, Mahé, Jean-Yves, Mallet, Stéphanie, MacGowan, Stuart, McAleer, Maeve A, McLean, Irwin, Méni, Cécile, Munnich, Arnold, Mussini, Jean-Marie, Nagy, Peter L, Odel, Jeffrey, O'Regan, Grainne M, Péréon, Yann, Perrier, Julie, Piard, Juliette, Puzenat, Eve, Sampson, Jacinda B, Smith, Frances, Soufir, Nadem, Tanji, Kurenai, Thauvin, Christel, Ulane, Christina, Watson, Rosemarie M, Khumalo, Nonhlanhla P, Mayosi, Bongani M, Barbarot, Sébastien, Bézieau, Stéphane

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients von Mignot, Cyril, Mcmahon, Aoife, Bar, Claire, Campeau, Philippe, Davidson, David, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Genevieve, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan, Hagebeuk, Eveline, Hamdan, Fadi, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphne, Marjanovic, Dragan, Metreau, Julia, Michaud, Jacques, Miller, Kathryn, Minassian, Berge, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quélin, Chloé, Rosen, Alyssa, Roume, Joëlle, Rossignol, Elsa, Simon, Marleen, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel, van Der Smagt, Jasper, van Hasselt, Peter, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke, Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel

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Extracellular proteases and their inhibitors in genetic diseases of the central nervous system von MOLINARI, Florence, MESKANAITE, Virginia, MUNNICH, Arnold, SONDEREGGER, Peter, COLLEAUX, Laurence

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Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome von Thompson, Miles D., Nezarati, Marjan M., Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Mendoza, Roberto, Mornet, Etienne, Brun-Heath, Isabelle, Squarcioni, Catherine Prost, Legeai-Mallet, Laurence, Munnich, Arnold, Cole, David E.C.

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? von Repp, Birgit M, Mastantuono, Elisa, Alston, Charlotte L, Schiff, Manuel, Haack, Tobias B, Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B, Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert JM, Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus FM, Moroni, Isabella, Smet, Joél, Mayr, Johannes A, Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J, McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M, Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W, Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

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Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients von Michot, Caroline, Le Goff, Carine, Mahaut, Clémentine, Afenjar, Alexandra, Brooks, Alice S, Campeau, Philippe M, Destree, Anne, Di Rocco, Maja, Donnai, Dian, Hennekam, Raoul, Heron, Delphine, Jacquemont, Sébastien, Kannu, Peter, Lin, Angela E, Manouvrier-Hanu, Sylvie, Mansour, Sahar, Marlin, Sandrine, McGowan, Ruth, Murphy, Helen, Raas-Rothschild, Annick, Rio, Marléne, Simon, Marleen, Stolte-Dijkstra, Irene, Stone, James R, Sznajer, Yves, Tolmie, John, Touraine, Renaud, van den Ende, Jenneke, Van der Aa, Nathalie, van Essen, Ton, Verloes, Alain, Munnich, Arnold, Cormier-Daire, Valérie

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KARL OTTO MÜNNICH (1925–2003): IN MEMORIAM – CORRIGENDUM von Kromer, Bernd, Levin, Ingeborg, Lindauer, Susanne, Jähne, Bernd, Münnich, Matthias, Platt, Ulrich, Schlosser, Peter

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