Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia von Hepp, Nicola, Frederiksen, Anja Lisbeth, Dunø, Morten, Jørgensen, Niklas Rye, Langdahl, Bente, Vedtofte, Poul, Hove, Hanne B., Hindsø, Klaus, Jensen, Jens-Erik Beck

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Primrose syndrome: Characterization of the phenotype in 42 patients von Melis, Daniela, Carvalho, Daniel, Barbaro‐Dieber, Tina, Espay, Alberto J., Gambello, Michael J., Gener, Blanca, Gerkes, Erica, Hitzert, Marrit M., Hove, Hanne B., Jansen, Sandra, Jira, Petr E., Lachlan, Katherine, Menke, Leonie A., Narayanan, Vinodh, Ortiz, Damara, Overwater, Eline, Posmyk, Renata, Ramsey, Keri, Rossi, Alessandro, Sandoval, Renata Lazari, Stumpel, Constance, Stuurman, Kyra E., Cordeddu, Viviana, Turnpenny, Peter, Strisciuglio, Pietro, Tartaglia, Marco, Unger, Sheela, Waters, Todd, Turnbull, Clare, Hennekam, Raoul C.

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Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis von Öwall, Louise, Darvann, Tron A., Hove, Hanne B., Bøgeskov, Lars, Kreiborg, Sven, Hermann, Nuno V.

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Facial Asymmetry in Nonsyndromic and Muenke Syndrome–Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans von Öwall, Louise, Darvann, Tron A., Hove, Hanne B., Heliövaara, Arja, Dunø, Morten, Kreiborg, Sven, Hermann, Nuno V.

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Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum von Luyckx, Ilse, Bolar, Nikhita, Diness, Birgitte Rode, Hove, Hanne B., Verstraeten, Aline, Loeys, Bart L.

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Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia von Bayat, Allan, Dunø, Morton, Kirchhoff, Maria, Jørgensen, Finn S., Nishimura, Gen, Hove, Hanne B.

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Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound von Jeppesen, Bolette F., Hove, Hanne B., Kreiborg, Sven, Hermann, Nuno V., Darvann, Tron A., Jørgensen, Finn Stener

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Defining the clinical phenotype of Saul–Wilson syndrome von Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L., Bratke, Heiko, Haug, Marte Gjøl, Rohena, Luis, Hove, Hanne B., Xia, Zhi-Jie, Ng, Bobby G., Freeze, Hudson H., Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Earl, Dawn L., Tham, Emma, Nishimura, Gen, Phillips, John A., Gahl, William A., Hamid, Rizwan, Jackson, Andrew P., Grigelioniene, Giedre, Bober, Michael B.

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THU156 Significantly Improved Annual Height Velocity With Once-Weekly TransCon CNP In Children With Achondroplasia: The ACcomplisH Phase 2, Randomized, Double-Blind, Placebo-Contro... von Savarirayan, Ravi, McDonnell, Ciara, Hoernschemeyer, Daniel G, Hove, Hanne B, Zarate, Yuri A, Bober, Michael B, Bacino, Carlos A, Legare, Janet M, Högler, Wolfgang, Quattrin, Teresa, Abuzzahab, M Jennifer, Hofman, Paul L, White, Klane K, Ma, Nina, Schnabel, Dirk, Sousa, Sérgio B, Fan, Xiaolin, Chakraborty, Mukta, Giwa, Adebola, Smith, Sharon E, Volck, Birgitte, Shu, Aimee D

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Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound von Jeppesen, Bolette F, Hove, Hanne B, Kreiborg, Sven, Hermann, Nuno V, Darvann, Tron A, Jørgensen, Finn Stener

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation von Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.

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Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders von Jensen, Jacob K., Nygaard, Rie H., Svensson, Rene B., Hove, Hanne D., Magnusson, S. Peter, Kjær, Michael, Couppé, Christian

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DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome von White, Janson, Mazzeu, Juliana F., Hoischen, Alexander, Jhangiani, Shalini N., Gambin, Tomasz, Alcino, Michele Calijorne, Penney, Samantha, Saraiva, Jorge M., Hove, Hanne, Skovby, Flemming, Kayserili, Hülya, Estrella, Elicia, Vulto-van Silfhout, Anneke T., Steehouwer, Marloes, Muzny, Donna M., Sutton, V. Reid, Gibbs, Richard A., Lupski, James R., Brunner, Han G., van Bon, Bregje W.M., Carvalho, Claudia M.B.

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Relationship between patient presentation and morphology of coronary atherosclerosis by quantitative multidetector computed tomography von de Knegt, Martina C, Linde, Jesper J, Fuchs, Andreas, Pham, Michael H C, Jensen, Andreas K, Nordestgaard, Børge G, Kelbæk, Henning, Køber, Lars V, Heitmann, Merete, Fornitz, Gitte, Hove, Jens D, Kofoed, Klaus F

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Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability von Bisschoff, Izak J., Zeschnigk, Christine, Horn, Denise, Wellek, Brigitte, Rieß, Angelika, Wessels, Maja, Willems, Patrick, Jensen, Peter, Busche, Andreas, Bekkebraten, Jens, Chopra, Maya, Hove, Hanne Dahlgaard, Evers, Christina, Heimdal, Ketil, Kaiser, Ann-Sophie, Kunstmann, Erdmut, Robinson, Kristina Lagerstedt, Linné, Maja, Martin, Patricia, McGrath, James, Pradel, Winnie, Prescott, Katrina E., Roesler, Bernd, Rudolf, Gorazd, Siebers-Renelt, Ulrike, Tyshchenko, Nataliya, Wieczorek, Dagmar, Wolff, Gerhard, Dobyns, William B., Morris-Rosendahl, Deborah J.

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The importance of nonobstructive plaque characteristics in symptomatic and asymptomatic coronary artery disease von de Knegt, Martina C., Linde, Jesper J., Sigvardsen, Per E., Engstrøm, Thomas, Fuchs, Andreas, Jensen, Andreas K., Elming, Hanne, Kühl, J. Tobias, Hansen, Peter R., Høfsten, Dan E., Kelbæk, Henning, Nordestgaard, Børge G., Hove, Jens D., Køber, Lars V., Kofoed, Klaus F., Kofoed, Klaus F., Nordestgaard, Børge, Køber, Lars V., Kühl, J. Tobias, Fuchs, Andreas, Sigvardsen, Per E., Sørgaard, Mathias, de Knegt, Martina C., Norsk, Jakob, Frestad, Daria, Mejdahl, Mads, Elming, Marie, Sørensen, Samuel Kiil, Hindsøe, Louise, Thomsen, Anna Foged, Udholm, Patricia Martens, Pihl, Christian, Nilsson, Julia, Byrne, Christina, Knudsen, Andreas Dehlbæk, Haugen, Morten, Windfeld-Mathiasen, Josefine, Laura Wiegandt, Yaffah Tamar, Pham, Michael H.C., Ballegaard, Christian, Arnaa, Kirsten, Møller, Christina, Thrysøe, Kirsten, Linde, Jesper J., Hove, Jens D., Jensen, Gorm B., Kelbæk, Henning, Nielsen, Walter, Trysøe, Kirsten, Bock-Pedersen, Tina, Hansen, Bettina, Kofoed, Klaus F., Køber, Lars V., Kløvgaard, Lene, Linde, Jesper J., Kühl, J. Tobias, Holmvang, Lene, Engstrøm, Thomas, Helquist, Steffen, Jørgensen, Erik, Petersen, Frans, Saunamaki, Kari, Clemmensen, Peter, Høfsten, Dan E., de Knegt, Martina C., Sadjadieh, Golnaz, Laursen, Peter Nørkjær, Petersen, Christian Torp, Hansen, Peter Riis, Gislason, Gunnar, Abildgaard, Ulrik, Jensen, Jan Skov, Galatius, Søren, Fritz-Hansen, Thomas, Bech, Jan, Wachtell, Christian, Madsen, Jan Kyst, Smedegaard, Lærke, Özcan, Cengiz, Heitmann, Merete, Svendsen, Ida Hastrup, Nielsen, Olav Wendelboe, Kristiansen, Ole, Bjerre, Andreas Fabricius, Hove, Jens D., Nielsen, Walter, Dixen, Ulrik, Madsen, Johnny Koertz, Fornitz, Gitte Gleerup, Raymond, Ilan, Abdulla, Jawdat, Lyngbæk, Stig, Steffensen, Rolf, Jurlander, Birgit, Kragelund, Charlotte, Dominguez, Helena, Schou, Morten, Kelbæk, Henning, Elming, Hanne, Therkelsen, Susette

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Lactic acid bacteria and the human gastrointestinal tract von HOVE, H, NØRGAARD, H, MORTENSEN, P. B

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Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations von Rendtorff, Nanna D., Bjerregaard, Bolette, Frödin, Morten, Kjaergaard, Susanne, Hove, Hanne, Skovby, Flemming, Brøndum-Nielsen, Karen, Schwartz, Marianne

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Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability von Bisschoff, Izak J, Zeschnigk, Christine, Horn, Denise, Wellek, Brigitte, Rieß, Angelika, Wessels, Maja, Willems, Patrick, Jensen, Peter, Busche, Andreas, Bekkebraten, Jens, Chopra, Maya, Hove, Hanne Dahlgaard, Evers, Christina, Heimdal, Ketil, Kaiser, Ann-Sophie, Kunstmann, Erdmut, Robinson, Kristina Lagerstedt, Linné, Maja, Martin, Patricia, McGrath, James, Pradel, Winnie, Prescott, Trine E, Roesler, Bernd, Rudolf, Gorazd, Siebers-Renelt, Ulrike, Tyshchenko, Nataliya, Wieczorek, Dagmar, Wolff, Gerhard, Dobyns, William B., Morris-Rosendahl, Deborah J

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Influence of intestinal inflammation (IBD) and small and large bowel length on fecal short-chain fatty acids and lactate von HOVE, H, MORTENSEN, P. B

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