Objects
Scheermeyer, Elly, Hughes, Ian, Davies, Peter S. W., Choong, Catherine S. Y., Harris, Mark, Ambler, Geoff, Crock, Patricia, Verge, Charles F., Craig, Maria E., Bergman, Phil, Werther, George, van Driel, Mieke. Wiley-Blackwell Publishing; 2013. Response to growth hormone treatment in Prader - Willi syndrome: auxological criteria versus genetic diagnosis.
Thorwarth, Anne, Schnittert-Hüebener, Sarah, Ebert, Grit, Steininger, Anne, Böennemann, Carsten, Brockmann, Knut, Christen, Hans-Jürgen, Crock, Patricia, deZegher, Francis, Griese, Matthias, Hewitt, Jacqueline, Ivarsson, Sten, Schrumpf, Pamela, Hüebner, Christoph, Kapelari, Klaus, Plecko, Barbara, Rating, Dietz, Stoeva, Iva, Ropers, Hans-Hilger, Grüeters, Annette, Ullmann, Reinhard, Krude, Heiko, Müeller, Ines, Jyrch, Sabine, Dame, Christof, Biebermann, Heike, Kleinau, Gunnar, Katchanov, Juri, Schuelke, Markus. BMJ Group; 2014. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Eggers, Stefanie, Sadedin, Simon, Cameron, Fergus, Werther, George, Hutson, John, O'Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, van den Bergen, Jocelyn A., Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Robevska, Gorjana, Crock, Patricia, Cowell, Chris, Leong, Gary M., Ono, Makato, Lafferty, Antony R., Huynh, Tony, Visser, Uma, Choong, Catherine S., McKenzie, Fiona, Pachter, Nicholas, Ohnesorg, Thomas, Thompson, Elizabeth M., Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J., Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I., Hewitt, Jacqueline, Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A., Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Lambeth, Luke, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Bouty, Aurore, Oshlack, Alicia, Ayers, Katie L., Sinclair, Andrew H., Knarston, Ingred M., Tan, Tiong Yang. BioMed Central; 2016. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Pisciotta, Livia, Tozzi, Giulia, Vora, Komal, Nightingale, Scott, Michelakakis, Helen, Garoufi, Anastasia, Lykopoulou, Lilia, Bertolini, Stefano, Calandra, Sebastiano, Travaglini, Lorena, Taurisano, Roberta, Lucchi, Tiziano, Indolfi, Giuseppe, Papadia, Francesco, Di Rocco, Maja, D'Antiga, Lorenzo, Crock, Patricia. Elsevier; 2017. Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Ong, Lin Kooi, Chow, Wei Zhen, Walker, Frederick R., Nilsson, Michael, Isgaard, Jörgen, Tebay, Clifford, Kluge, Murielle, Pietrogrande, Giovanni, Zalewska, Katarzyna, Crock, Patricia, Åberg, Daivd, Bivard, Andrew, Johnson, Sarah J.. Lippincott Williams & Wilkins; 2018. Growth hormone improves cognitive function after experimental stroke.
Groeneweg, Stefan, van Geest, Ferdy S., Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F. M., Coutant, Régis, Craiu, Dana, Abaci, Ayhan, Crock, Patricia, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Alcantud, Alberto, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Ambegaonkar, Gautem P., Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenço, CM, Lunsing, RJ, Lyons, G, Armour, Christine M., Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Müller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Bakhtiani, Priyanka, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, Barca, Diana, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, Gopinath M., Tonduti, D, Turan, S, den Uil, CA, Vanderniet, Joel, van der Walt, A, Wémeau, JL, Bertini, Enrico S., Wierzba, J, de Wit, MCY, Wolf, NI, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE, van Beynum, Ingrid M.. The Lancet Publishing Group; 2020. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.