Objects
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.
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.
Mackay, Jessica, Nixon, Gillian M., Vora, Komal, Crock, Patricia, Verge, Charles, Musthaffa, Yassmin, Blecher, Greg, Caudri, Daan, Leonard, Helen, Jacoby, Peter, Wilson, Andrew, Choong, Catherine S., Lafferty, Antony R., Downs, Jenny, Ambler, Geoff, Kapur, Nitin, Bergman, Philip B., Schofield, Cara, Seton, Chris, Tai, Andrew, Tham, Elaine. Springer; 2022. Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study.
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.
van Geest, Ferdy S., Groeneweg, Stefan, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D., Christian, Peter, Coutant, Régis, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, van den Akker, Erica L. T., Dubey, Rachana, Enderli, A, Fairchild, J, Gallichan, J, Garibaldi, LR, George, B, Hackenberg, A, Heinrich, B, Huynh, T, Klosowska, A, Bacos, Iuliu, Lawson-Yuen, A, Linder-Lucht, M, Lyons, G, Lora, FM, Moran, C, Muller, KE, Paone, L, Paul, PG, Polak, M, Porta, F, Barca, Diana, Reinauer, C, de Rijke, YB, Seckold, Rowen, Menevse, TS, Simm, P, Simon, A, Spada, M, Stoupa, A, Szeifert, L, Tonduti, D, van den Berg, Sjoerd A. A., van Toor, H, Turan, S, Vanderniet, Joel, de Waart, M, van der Wal, R, van der Walt, A, Van Wermeskerken, A-M, Wierzba, J, Zibordi, F, Zung, A, Bertini, Enrico, Peeters, RP, Visser, WE, Brunner, Doris, Brunetti-Pierri, Nicola, Cappa, Marco. Oxford University Press (OUP); 2021. Long-Term Efficacy of T3 Analogue Triac in Children and Adults with MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
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.
Mackay, Jessica, McCallum, Zoe, Ambler, Geoffrey R., Vora, Komal, Nixon, Gillian, Bergman, Philip, Shields, Nora, Milner, Kate, Kapur, Nitin, Crock, Patricia, Caudri, Daan, Curran, Jaqueline, Verge, Charles, Seton, Chris, Tai, Andrew, Tham, Elaine, Musthaffa, Yassmin, Lafferty, Antony R., Blecher, Greg, Harper, Jessica, Schofield, Cara, Nielsen, Aleisha, Wilson, Andrew, Leonard, Helen, Choong, Catherine S., Downs, Jenny. Wiley-Blackwell Publishing; 2019. Requirements for improving health and well-being of children with Prader-Willi syndrome and their families.
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.
Caudri, Daan, Nixon, Gillian M., Bergman, Philip B., Vora, Komal A., Crock, Patricia, Verge, Charles F., Tham, Elaine, Musthaffa, Yassmin, Lafferty, Antony R., Jacoby, Peter, Wilson, Andrew C., Downs, Jenny, Nielsen, Aleisha, Choong, CS, Mai, Linda, Hafekost, Claire R., Kapur, Nitin, Seton, Chris, Tai, Andrew, Blecher, Greg, Ambler, Geoff. Wiley-Blackwell; 2022. Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy.
Choong, Catherine S., Nixon, Gillian M., Schofield, Cara, Seton, Chris, Tai, Andrew, Tham, Elaine, Vora, Komal, Crock, Patricia, Verge, Charles, Musthaffa, Yassmin, Blecher, Greg, Wilson, Andrew, Blackmore, A. Marie, Downs, Jenny, Chen, Wai, Jacoby, Peter, Leonard, Helen, Lafferty, Antony R., Ambler, Geoff, Kapur, Nitin, Bergman, Philip B.. Springer; 2022. Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome.