Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy von Pinard, Amélie, Fiander, Maximillian D.J., Cecchi, Alana C., Rideout, Andrea L., Azouz, Mohamed, Fraser, Stuart M., McNeely, P. Daniel, Walling, Simon, Novara, Sarah C., Hurst, Anna C.E., Guo, Dongchuan, Parkash, Sandhya, Bamshad, Michael J., Nickerson, Deborah A., Vandersteen, Anthony M., Milewicz, Dianna M.

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Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene von Stembridge, Natasha S., Vandersteen, Anthony M., Ghali, Neeti, Sawle, Philip, Nesbitt, Mandy, Pollitt, Rebecca C., Ferguson, David J. P., Holden, Simon, Elmslie, Frances, Henderson, Alex, Hulmes, David J. S., Pope, F.Michael

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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by... von Vandersteen, Anthony M., Lund, Allan M., Ferguson, David J.P., Sawle, Philip, Pollitt, Rebecca C., Holder, Susan E., Wakeling, Emma, Moat, Neil, Pope, F. Michael

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Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: Confirmation of an entity von Vandersteen, Anthony M, Hennekam, Raoul C

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Association of De Novo RNF213 Variants With Childhood OnsetMoyamoya Disease and Diffuse Occlusive Vasculopathy von Pinard, Amelie, Fiander, Maximillian D. J., Cecchi, Alana C., Rideout, Andrea L., Azouz, Mohamed, Fraser, Stuart M., McNeely, P. Daniel, Walling, Simon, Novara, Sarah C., Hurst, Anna C. E., Guo, Dongchuan, Parkash, Sandhya, Bamshad, Michael J., Nickerson, Deborah A., Vandersteen, Anthony M., Milewicz, Dianna M.

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Association of de novo RNF213 Variants with Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy von Pinard, Amélie, Fiander, Maximillian D.J., Cecchi, Alana C., Rideout, Andrea L., Azouz, Mohamed, Fraser, Stuart M., McNeely, P. Daniel, Walling, Simon, Novara, Sarah C., Hurst, Anna C. E., Guo, Dongchuan, Parkash, Sandhya, Bamshad, Michael J., Nickerson, Deborah A., Vandersteen, Anthony M., Milewicz, Dianna M.

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update von Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Consortium, Care4Rare Canada, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A.

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A Re-examination of Two Linear Pentapeptides Claimed To Be Serine Protease Mimics von Vandersteen, Anthony M, Janda, Kim D

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Poly(ethylene glycol) (PEG) as a reagent support: the preparation and utility of a PEG–triarylphosphine conjugate in liquid-phase organic synthesis (LPOS) von Jr, Paul Wentworth, Vandersteen, Anthony M., Janda, Kim D.

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Genetic diagnosis in clinical psychiatry: A case report of a woman with a 47, XXX karyotype and Fragile X syndrome von Vandersteen, Anthony M., Moore, David, Donaghue, Celia, MacFarlane, Neil, Josifova, Dragana

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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome von Vandersteen, Anthony M, Weerakkody, Ruwan A, Parry, David A, Kanonidou, Christina, Toddie-Moore, Daniel J, Vandrovcova, Jana, Darlay, Rebecca, Santoyo-Lopez, Javier, Meynert, Alison, NIHR BioResource, Kazkaz, Hanadi, Grahame, Rodney, Cummings, Carole, Bartlett, Marion, Ghali, Neeti, Brady, Angela F, Pope, F Michael, van Dijk, Fleur S, Cordell, Heather J, Aitman, Timothy J

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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome von Vandersteen, Anthony M, Weerakkody, Ruwan A, Parry, David A, Kanonidou, Christina, Toddie-Moore, Daniel J, Vandrovcova, Jana, Darlay, Rebecca, Santoyo-Lopez, Javier, Meynert, Alison, Kazkaz, Hanadi, Grahame, Rodney, Cummings, Carole, Bartlett, Marion, Ghali, Neeti, Brady, Angela F, Pope, F Michael, van Dijk, Fleur S, Cordell, Heather J, Aitman, Timothy J

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High-throughput synthesis and direct screening for the discovery of novel hydrolytic metal complexes von Berg, Thorsten, Vandersteen, Anthony M., Janda, Kim D.

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Liquid-phase combinatorial synthesis: in search of small-molecule enzyme mimics von Vandersteen, A M, Han, H, Janda, K D

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Some observations relating to the use of 1-aryl-4-alkoxypiperidin-4-yl groups for the protection of the 2′-hydroxy functions in the chemical synthesis of oligoribonucleotides von Lloyd, Wayne, Reese, Colin B., Song, Quanlai, Vandersteen, Anthony M., Visintin, Cristina, Zhang, Pei-Zhou

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ChemInform Abstract: Some Observations Relating to the Use of 1-Aryl-4-alkoxypiperidin-4-yl Groups for the Protection of the 2′-Hydroxy Functions in the Chemical Synthesis of Oligo... von Lloyd, Wayne, Reese, Colin B., Song, Quanlai, Vandersteen, Anthony M., Visintin, Cristina, Zhang, Pei-Zhou

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement von Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Aleck, Kirk, Banki, Zoltan, Dudas, Joszef, Dumfahrt, Herbert, Haririan, Hady, Hartsfield, James K., Kagen, Charles N., Lindert, Uschi, Meitinger, Thomas, Posch, Wilfried, Pritz, Christian, Ross, David, Schroer, Richard J., Wick, Georg, Wildin, Robert, Wilflingseder, Doris, Byers, Peter H., Zschocke, Johannes

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Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia von Verstraeten, Aline, Perik, Melanie H.A.M., Baranowska, Anna A., Meester, Josephina A.N., Van Den Heuvel, Lotte, Bastianen, Jarl, Kempers, Marlies, Krapels, Ingrid P.C., Maas, Angela, Rideout, Andrea, Vandersteen, Anthony, Sobey, Glenda, Johnson, Diana, Fransen, Erik, Ghali, Neeti, Webb, Tom, Al-Hussaini, Abtehale, de Leeuw, Peter, Delmotte, Philippe, Lopez-Sublet, Marilucy, Pappaccogli, Marco, Sprynger, Muriel, Toubiana, Laurent, Van Laer, Lut, Van Dijk, Fleur S., Vikkula, Miikka, Samani, Nilesh J., Persu, Alexandre, Adlam, David, Loeys, Bart

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The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms von Boycott, Kym M., Campeau, Philippe M., Howley, Heather E., Pavlidis, Paul, Rogic, Sanja, Oriel, Christine, Berman, Jason N., Hamilton, Robert M., Hicks, Geoffrey G., Lipshitz, Howard D., Masson, Jean-Yves, Shoubridge, Eric. A., Junker, Anne, Leroux, Michel R., McMaster, Christopher R., Michaud, Jaques L., Turvey, Stuart E., Dyment, David, Innes, A. Micheil, van Karnebeek, Clara D., Lehman, Anna, Cohn, Ronald D., MacDonald, Ian M., Rachubinski, Richard A., Frosk, Patrick, Vandersteen, Anthony, Wozniak, Richard W., Pena, Izabella A., Wen, Xiao-Yan, Lacaze-Masmonteil, Thierry, Rankin, Catharine, Hieter, Philip

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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency von Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R., Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J., Schnur, Rhonda E., Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J., Masser-Frye, Diane, Bird, Lynne M., Lindstrom, Kristin, Ramsey, Keri M., Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G., Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H., Klein Wassink-Ruiter, Jolien S., Bijlsma, Emilia, Hoffer, Mariëtte, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A., Machol, Keren, Scott, Daryl A., Bacino, Carlos A., Wang, Xia, Clark, Gary D., Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H., Akay, Ela, Chang, Richard C., Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E., Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W., Lefebvre, Véronique, Clark, Karl J., Depienne, Christel

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