Torthaí cuardaigh - Yaplito‐Lee, Joy

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy de réir Donoghue, Sarah E., White, Susan M., Tan, Tiong Yang, Kowalski, Remi, Morava, Eva, Yaplito‐Lee, Joy

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature de réir Yaplito‐Lee, Joy, Pai, Gautham, Hardikar, Winita, Hong, Kai M., Pitt, James, Marum, Justine, Amor, David J.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease de réir Bursle, Carolyn, Yiu, Eppie M., Yeung, Alison, Freeman, Jeremy L., Stutterd, Chloe, Leventer, Richard J., Vanderver, Adeline, Yaplito‐Lee, Joy

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Neuronal ceroid lipofuscinosis type 2: an Australian case series de réir Johnson, Alexandra M, Mandelstam, Simone, Andrews, Ian, Boysen, Katja, Yaplito‐Lee, Joy, Fietz, Michael, Nagarajan, Lakshmi, Rodriguez‐Casero, Victoria, Ryan, Monique M, Smith, Nicholas, Scheffer, Ingrid E, Ellaway, Carolyn

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

SURF1 deficiency: a multi-centre natural history study de réir Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood de réir van Karnebeek, Clara D., Sly, William S., Ross, Colin J., Salvarinova, Ramona, Yaplito-Lee, Joy, Santra, Saikat, Shyr, Casper, Horvath, Gabriella A., Eydoux, Patrice, Lehman, Anna M., Bernard, Virginie, Newlove, Theresa, Ukpeh, Henry, Chakrapani, Anupam, Preece, Mary Anne, Ball, Sarah, Pitt, James, Vallance, Hilary D., Coulter-Mackie, Marion, Nguyen, Hien, Zhang, Lin-Hua, Bhavsar, Amit P., Sinclair, Graham, Waheed, Abdul, Wasserman, Wyeth W., Stockler-Ipsiroglu, Sylvia

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea de réir Xia, Fan, Bainbridge, Matthew N., Tan, Tiong Yang, Wangler, Michael F., Scheuerle, Angela E., Zackai, Elaine H., Harr, Margaret H., Sutton, V. Reid, Nalam, Roopa L., Zhu, Wenmiao, Nash, Margot, Ryan, Monique M., Yaplito-Lee, Joy, Hunter, Jill V., Deardorff, Matthew A., Penney, Samantha J., Beaudet, Arthur L., Plon, Sharon E., Boerwinkle, Eric A., Lupski, James R., Eng, Christine M., Muzny, Donna M., Yang, Yaping, Gibbs, Richard A.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder de réir Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

ALG1-CDG: Clinical and molecular characterization of 39 unreported patients de réir Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán