Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies by Suchowersky, Oksana, Au, P. Y. B., McMillan, J. M., Toppings, N. B., Donovan, L. E.

Get full text

Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1 ‐related ciliopathy spectrum by Gillesse, E., Wade, A., Parboosingh, J. S., Au, P. Y. B., Bernier, F. P., Lamont, R. E., Innes, A. M.

Get full text

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome by Au, P.Y.B, Huang, L, Broley, S, Gallagher, L, Creede, E, Lahey, D, Ordorica, S, Mina, K, Boycott, K.M, Baynam, G, Dyment, D.A

Get full text

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy by Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella A., Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M., Petit, Florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, Philippe, Christophe, van de Laar, Ingrid M. B. H., van Slegtenhorst, Marjon A., Campeau, Philippe M., Au, Ping Yee Billie, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond J., Lyons, Michael J., Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew T., Fuchs, Sabine A., Depienne, Christel, Mignot, Cyril

Get full text

Structural mapping of GABRB3 variants reveals genotype–phenotype correlations by Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., Gardella, Elena

Get full text

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies by Toppings, N B, McMillan, J M, Au, P Y B, Suchowersky, O, Donovan, L E

Get full text

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome by Au, P Y B, Huang, L, Broley, S, Gallagher, L, Creede, E, Lahey, D, Ordorica, S, Mina, K, Boycott, K M, Baynam, G, Dyment, D A

Get full text

Mass estimates from optical modelling of the new TRAPUM redback PSR J1910−5320 by Dodge, O G, Breton, R P, Clark, C J, Burgay, M, Strader, J, Au, K -Y, Barr, E D, Buchner, S, Dhillon, V S, Ferrara, E C, Freire, P C C, Griessmeier, J -M, Kennedy, M R, Kramer, M, Li, K -L, Padmanabh, P V, Phosrisom, A, Stappers, B W, Swihart, S J, Thongmeearkom, T

Get full text

Gastrointestinal safety of celecoxib versus naproxen in patients with cardiothrombotic diseases and arthritis after upper gastrointestinal bleeding (CONCERN): an industry-independe... by Chan, Francis K L, Prof, Ching, Jessica Y L, MPH, Tse, Yee Kit, MPhil, Lam, Kelvin, MBChB, Wong, Grace L H, MD, Ng, Siew C, PhD, Lee, Vivian, PharmD, Au, Kim W L, MPH, Cheong, Pui Kuan, MPH, Suen, Bing Y, BHSc, Chan, Heyson, MBChB, Kee, Ka Man, MPH, Lo, Angeline, MBChB, Wong, Vincent W S, MD, Wu, Justin C Y, MD, Kyaw, Moe H, MBBS

Get full text

Whole-genome characterization of chemoresistant ovarian cancer by Patch, Ann-Marie, Christie, Elizabeth L, Etemadmoghadam, Dariush, Garsed, Dale W, George, Joshy, Fereday, Sian, Nones, Katia, Cowin, Prue, Alsop, Kathryn, Bailey, Peter J, Kassahn, Karin S, Newell, Felicity, Quinn, Michael C J, Kazakoff, Stephen, Quek, Kelly, Wilhelm-Benartzi, Charlotte, Curry, Ed, Leong, Huei San, Hamilton, Anne, Mileshkin, Linda, Au-Yeung, George, Kennedy, Catherine, Hung, Jillian, Chiew, Yoke-Eng, Harnett, Paul, Friedlander, Michael, Quinn, Michael, Pyman, Jan, Cordner, Stephen, O'Brien, Patricia, Leditschke, Jodie, Young, Greg, Strachan, Kate, Waring, Paul, Azar, Walid, Mitchell, Chris, Traficante, Nadia, Hendley, Joy, Thorne, Heather, Shackleton, Mark, Miller, David K, Arnau, Gisela Mir, Tothill, Richard W, Holloway, Timothy P, Semple, Timothy, Harliwong, Ivon, Nourse, Craig, Nourbakhsh, Ehsan, Manning, Suzanne, Idrisoglu, Senel, Bruxner, Timothy J C, Christ, Angelika N, Poudel, Barsha, Holmes, Oliver, Anderson, Matthew, Leonard, Conrad, Lonie, Andrew, Hall, Nathan, Wood, Scott, Taylor, Darrin F, Xu, Qinying, Fink, J Lynn, Waddell, Nick, Drapkin, Ronny, Stronach, Euan, Gabra, Hani, Brown, Robert, Jewell, Andrea, Nagaraj, Shivashankar H, Markham, Emma, Wilson, Peter J, Ellul, Jason, McNally, Orla, Doyle, Maria A, Vedururu, Ravikiran, Stewart, Collin, Lengyel, Ernst, Pearson, John V, Waddell, Nicola, deFazio, Anna, Grimmond, Sean M, Bowtell, David D L

Get full text

Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis by Sahraeian, Sayed Mohammad Ebrahim, Mohiyuddin, Marghoob, Sebra, Robert, Tilgner, Hagen, Afshar, Pegah T, Au, Kin Fai, Bani Asadi, Narges, Gerstein, Mark B, Wong, Wing Hung, Snyder, Michael P, Schadt, Eric, Lam, Hugo Y K

Get full text

Clinical and Molecular Epidemiology of Human Bocavirus in Respiratory and Fecal Samples from Children in Hong Kong by Lau, Susanna K. P., Yip, Cyril C. Y., Que, Tak-lun, Lee, Rodney A., Au-Yeung, Rex K. H., Zhou, Boping, So, Lok-yee, Lau, Yu-lung, Chan, Kwok-hung, Woo, Patrick C. Y., Yuen, Kwok-yung

Request full text

Progress toward standardized diagnosis of vascular cognitive impairment: Guidelines from the Vascular Impairment of Cognition Classification Consensus Study by Black, Sandra E., Chen, Christopher, DeCarli, Charles, Erkinjuntti, Timo, Ford, Gary A., Kalaria, Rajesh N., Pantoni, Leonardo, Roman, Gustavo C., Wallin, Anders, Skoog, Ingmar, Kril, J., Cavalieri, M., Jellinger, K.A., Engelborghs, S., Lafosse, C., Bertolucci, P.H., Caramelli, P., Kirk, A., Leach, L., Robillard, A., Sahlas, D.J., Guo, Q., Tian, J., Jokinen, H., Benisty, S., Tsatali, M., Tsolaki, M., Coen, R.F., Altieri, M., Baldereschi, M., Caravaglios, G., Di Carlo, A., Galluzzi, S., Logroscino, G., Moretti, D.V., Padovani, A., Ihara, M., Mizuno, T., Kim, S.Y., Akinyemi, R., Baiyewu, O., Ogunniyi, A., Szczudlik, A., Firmino, H., Massano, J., Verdelho, A., Kruglov, L.S., Ikram, M.K., Kandiah, N., Arana, E., Barroso-Ribal, J., Cruz-Jentoft, A.J., Martinez-Lage, P., Mataro, M., Englund, E., Laukka, E.J., Qiu, C., Viitanen, M., Biessels, G.J., de Leeuw, F.-E., den Heijer, T., Exalto, L.G., Kappelle, L.J., Prins, N.D., Richard, E., van den Berg, E., Bilgic, B., Allan, L.M., Archer, J., Attems, J., Brayne, C., Bullock, R., Farrant, A., Ince, P.G., Langhorne, P., Mayer, P., Pendlebury, S.T., Perneczky, R., Smithard, D., Stephan, B.C., Todd, S., Werring, D.J., Wilcock, G., Au, R., Bozoki, A., Crane, P.K., Diniz, B.S., Etcher, L., Hurt, S.W., Lamar, M., Ott, B.R., Perry, G., Powers, W.J., Romero, J.R., Saykin, A.J., Seshadri, S., Silbert, L., Ben-Shlomo, Yoav, Passmore, Anthony P., Kehoe, Patrick G.

Get full text

Development of a marine fish model for studying in vivo molecular responses in ecotoxicology by Kong, R.Y.C., Giesy, J.P., Wu, R.S.S., Chen, E.X.H., Chiang, M.W.L., Lim, P.L., Yuen, B.B.H., Yip, B.W.P., Mok, H.O.L., Au, D.W.T.

Get full text

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome by Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna

Get full text

The Vascular Impairment of Cognition Classification Consensus Study by Skrobot, Olivia A, O'Brien, John, Black, Sandra, Chen, Christopher, DeCarli, Charles, Erkinjuntti, Timo, Ford, Gary A, Kalaria, Rajesh N, Pantoni, Leonardo, Pasquier, Florence, Roman, Gustavo C, Wallin, Anders, Sachdev, Perminder, Skoog, Ingmar, Ben-Shlomo, Yoav, Passmore, Anthony P, Love, Seth, Kehoe, Patrick G

Get full text

Production of innovative radionuclides for medical applications at the CERN-MEDICIS facility by Bernerd, C., Johnson, J.D., Aubert, E., Au, M., Barozier, V., Bernardes, A.-P., Bertreix, P., Bruchertseifer, F., Catherall, R., Chevallay, E., Chrysalidis, K., Christodoulou, P., Cocolios, T.E., Crepieux, B., Deschamps, M., Dorsival, A., Duchemin, C., Fedosseev, V., Fernier, P., Heines, M., Heinke, R., Khalid, U., Khan, M., Khan, Q., Lambert, L., Mamis, E., Marsh, B.A., Marzari, S., Menaa, N., Munos, M., Pozzi, F., Prvakova, S., Ramos, J.P., Riccardi, F., Rinchet, J.-Y., Rossel, R.E., Stora, T., Thiboud, J., Vollaire, J., Van Den Bergh, V., Wojtaczka, W.

Get full text

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features by Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.

Get full text

Desulfurization of hot coal gas over high-surface-area LaMeOx/MCM-41 sorbents by Liu, B.S., Wan, Z.Y., Zhan, Y.P., Au, C.T.

Get full text

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations by O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.

Get full text