- Zhao, Yingjie, Guo, Tingwei, Breckpot, Jeroen, Vermeesch, Joris, Chow, Eva W. C., Gothelf, Doron, Duijff, Sasja, Evers, Rens, van Amelsvoort, Thérèse, van den Bree, Marianne, Owen, Michael, Niarchou, Maria, Fiksinski, Ania, Campbell, Linda, Breetvelt, Elemi, McDonald-McGinn, Donna M., Crowley, Terrence B., Diacou, Alexander, Schneider, Maude, Eliez, Stephan, Swillen, Ann
- Creator: Zhao, Yingjie , Guo, Tingwei , Breckpot, Jeroen , Vermeesch, Joris , Chow, Eva W. C. , Gothelf, Doron , Duijff, Sasja , Evers, Rens , van Amelsvoort, Thérèse , van den Bree, Marianne , Owen, Michael , Niarchou, Maria , Fiksinski, Ania , Campbell, Linda , Breetvelt, Elemi , McDonald-McGinn, Donna M. , Crowley, Terrence B. , Diacou, Alexander , Schneider, Maude , Eliez, Stephan , Swillen, Ann
- Resource Type: journal article
- Date: 2018
- Vasiljevski, Emily R., Burns, Joshua, Baldwin, Jennifer N., Little, David G., Schindeler, Aaron, Bray, Paula, Donlevy, Gabrielle, Mudge, Anita J., Jones, Kristi J., Summers, Matthew A., Biggin, Andrew, Munns, Craig F., McKay, Marnee J.
- Creator: Vasiljevski, Emily R. , Burns, Joshua , Baldwin, Jennifer N. , Little, David G. , Schindeler, Aaron , Bray, Paula , Donlevy, Gabrielle , Mudge, Anita J. , Jones, Kristi J. , Summers, Matthew A. , Biggin, Andrew , Munns, Craig F. , McKay, Marnee J.
- Resource Type: journal article
- Date: 2021
- Sy, Mary R., Chauhan, Jaynee, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Veronique, Vieville, Gaelle, Donaldson, Alan, Prescott, Katrina, Beneteau, C, Ghoumid, J, Van den Bogaert, K, Boogaerts, A, Boudry, E, Vanlerberghe, C, Petit, F, Bernardini, L, Torres, B, Mattina, T, Imam, Aliza, Carli, D, Mandrile, G, Pinelli, M, Brunetti-Pierri, N, Neas, K, Beddow, R, Torring, PM, Faletra, F, Spedicati, B, Gasparini, P, Kraus, Alison, Mussa, A, Ferrero, GB, Lampe, A, Lam, W, Bi, W, Bacino, CA, Kuwahara, A, Bush, JO, Zhao, X, Luna, PN, Beleza, Ana, Shaw, CA, Rosenfeld, JA, Scott, DA, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep
- Creator: Sy, Mary R. , Chauhan, Jaynee , Islam, Lily , Goel, Himanshu , Bain, Nicole , Park, Soo-Mi , Mohammed, Shehla , Dieterich, Klaus , Coutton, Charles , Satre, Veronique , Vieville, Gaelle , Donaldson, Alan , Prescott, Katrina , Beneteau, C , Ghoumid, J , Van den Bogaert, K , Boogaerts, A , Boudry, E , Vanlerberghe, C , Petit, F , Bernardini, L , Torres, B , Mattina, T , Imam, Aliza , Carli, D , Mandrile, G , Pinelli, M , Brunetti-Pierri, N , Neas, K , Beddow, R , Torring, PM , Faletra, F , Spedicati, B , Gasparini, P , Kraus, Alison , Mussa, A , Ferrero, GB , Lampe, A , Lam, W , Bi, W , Bacino, CA , Kuwahara, A , Bush, JO , Zhao, X , Luna, PN , Beleza, Ana , Shaw, CA , Rosenfeld, JA , Scott, DA , Salkeld, Lee , Hosdurga, Saraswati , Parker, Michael , Vasudevan, Pradeep
- Resource Type: journal article
- Date: 2022
- Schönewolf-Greulich, Bitten, Ronan, Anne, Ravn, Kristine, Baekgaard, Peter, Lodahl, Marianne, Nielsen, Kate, Rendtorff, Nanna D., Tranebjaerg, Lisbeth, Brøndum-Nielsen, Karen, Tümer, Zeynep
- Creator: Schönewolf-Greulich, Bitten , Ronan, Anne , Ravn, Kristine , Baekgaard, Peter , Lodahl, Marianne , Nielsen, Kate , Rendtorff, Nanna D. , Tranebjaerg, Lisbeth , Brøndum-Nielsen, Karen , Tümer, Zeynep
- Resource Type: journal article
- Date: 2011
Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion
- Ronan, Anne, Buiting, Karin, Dudding, Tracy
- Creator: Ronan, Anne , Buiting, Karin , Dudding, Tracy
- Resource Type: journal article
- Date: 2008
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease
- Ronan, Anne, Ingrey, Angela, Murray, Natalia, Chee, Paul
- Creator: Ronan, Anne , Ingrey, Angela , Murray, Natalia , Chee, Paul
- Resource Type: journal article
- Date: 2017
- Creator: Ronan, Anne , Ingrey, Angela , Murray, Natalia , Chee, Paul
- Resource Type: journal article
- Date: 2017
- McClelland, Jessie, Burgess, Bronwyn, Crock, Patricia, Goel, Himanshu
- Creator: McClelland, Jessie , Burgess, Bronwyn , Crock, Patricia , Goel, Himanshu
- Resource Type: journal article
- Date: 2016
FOXP1 mutations cause intellectual disability and a recognizable phenotype
- Le Fevre, Anna K., Taylor, Sharelle, Bain, Nicole, Fagan, Kerry, Hunter, Matthew F., Malek, Neva H., Horn, Denise, Carr, Christopher W., Abdul-Rahman, Omar A., O'Donnell, Sherindan, Burgess, Trent, Shaw, Marie, Gecz, Jozef
- Creator: Le Fevre, Anna K. , Taylor, Sharelle , Bain, Nicole , Fagan, Kerry , Hunter, Matthew F. , Malek, Neva H. , Horn, Denise , Carr, Christopher W. , Abdul-Rahman, Omar A. , O'Donnell, Sherindan , Burgess, Trent , Shaw, Marie , Gecz, Jozef
- Resource Type: journal article
- Date: 2013
- Le Fevre, Anna, Beygo, Jasmin, Silveira, Cheryl, Kamien, Benjamin, Clayton-Smith, Jill, Colley, Alison, Buiting, Karin, Dudding-Byth, Tracy
- Creator: Le Fevre, Anna , Beygo, Jasmin , Silveira, Cheryl , Kamien, Benjamin , Clayton-Smith, Jill , Colley, Alison , Buiting, Karin , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2017
- Kamien, Benjamin, Harraway, James, Lundie, Ben, Smallhorne, Lex, Gibbs, Vicki, Heath, Anna, Fullerton, Janice M.
- Creator: Kamien, Benjamin , Harraway, James , Lundie, Ben , Smallhorne, Lex , Gibbs, Vicki , Heath, Anna , Fullerton, Janice M.
- Resource Type: journal article
- Date: 2014
- Hwang, Yun Tae, Aliaga, Solange Mabel, Heard, Robert, Godler, David Eugeny, Arpone, Marta, Francis, David, Li, Xin, Chong, Belinda, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, Hunter, Matthew
- Creator: Hwang, Yun Tae , Aliaga, Solange Mabel , Heard, Robert , Godler, David Eugeny , Arpone, Marta , Francis, David , Li, Xin , Chong, Belinda , Slater, Howard Robert , Rogers, Carolyn , Bretherton, Lesley , Hunter, Matthew
- Resource Type: journal article
- Date: 2016
Expanding the phenotype of intellectual disability caused by HIVEP2 variants
- Goldsmith, Heidi, Wells, Anna, Sá, Maria J. N., Williams, Mark, Heussler, Helen, Buckman, Melissa, Pfundt, Rolph, de Vries, Bert B. A., Goel, Himanshu
- Creator: Goldsmith, Heidi , Wells, Anna , Sá, Maria J. N. , Williams, Mark , Heussler, Helen , Buckman, Melissa , Pfundt, Rolph , de Vries, Bert B. A. , Goel, Himanshu
- Resource Type: journal article
- Date: 2019
A de novo mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome
- Dunkerton, Sophie, Field, Matthew, Cho, Vicki, Bertram, Edward, Whittle, Belinda, Groves, Alexandra, Goel, Himanshu
- Creator: Dunkerton, Sophie , Field, Matthew , Cho, Vicki , Bertram, Edward , Whittle, Belinda , Groves, Alexandra , Goel, Himanshu
- Resource Type: journal article
- Date: 2015
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
- Crow, Yanick J., Marshall, Heather, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk-Him, Chiang, Diana, Clifford, David B., Cordelli, Duccio M., Rice, Gillian I., Goel, Himanshu, Demic, N, Desguerre, I, De Waele, L, Di Fonzo, A, Dunham, SR, Dyack, S, Elmslie, F, Ferrand, M, Fisher, G, Seabra, Luis, Karimiani, EG, Ghoumid, J, Gibbon, F, Goel, H, Hilmarsen, HT, Hughes, I, Jacob, A, Jones, EA, Kumar, R, Leventer, RJ, Jenkinson, Emma M., MacDonald, S, Maroofian, R, Mehta, SG, Metz, I, Monfrini, E, Neumann, D, Noetzel, M, O'Driscoll, M, Õunap, K, Panzer, A, Baranano, Kristin, Parikh, S, Prabhakar, P, Ramond, F, Sandford, R, Saneto, R, Soh, C, Stutterd, CA, Subramanian, GM, Talbot, K, Thomas, RH, Battini, Roberta, Toro, C, Touraine, R, Wakeling, E, Wassmer, E, Whitney, A, Livingston, JH, O'Keefe, RT, Badrock, AP, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas
- Creator: Crow, Yanick J. , Marshall, Heather , Bolduc, Francois , Boddaert, Natalie , Buckard, Johannes , Burnett, Heather , Calvert, Sophie , Caumes, Roseline , Ng, Andy Cheuk-Him , Chiang, Diana , Clifford, David B. , Cordelli, Duccio M. , Rice, Gillian I. , Goel, Himanshu , Demic, N , Desguerre, I , De Waele, L , Di Fonzo, A , Dunham, SR , Dyack, S , Elmslie, F , Ferrand, M , Fisher, G , Seabra, Luis , Karimiani, EG , Ghoumid, J , Gibbon, F , Goel, H , Hilmarsen, HT , Hughes, I , Jacob, A , Jones, EA , Kumar, R , Leventer, RJ , Jenkinson, Emma M. , MacDonald, S , Maroofian, R , Mehta, SG , Metz, I , Monfrini, E , Neumann, D , Noetzel, M , O'Driscoll, M , Õunap, K , Panzer, A , Baranano, Kristin , Parikh, S , Prabhakar, P , Ramond, F , Sandford, R , Saneto, R , Soh, C , Stutterd, CA , Subramanian, GM , Talbot, K , Thomas, RH , Battini, Roberta , Toro, C , Touraine, R , Wakeling, E , Wassmer, E , Whitney, A , Livingston, JH , O'Keefe, RT , Badrock, AP , Berger, Andrea , Blair, Edward , Blauwblomme, Thomas
- Resource Type: journal article
- Date: 2021
- Burdon, Kathryn P., Durkin, Shane R., Burke, Mary, Edwards, Matthew, Pater, John, Straga, Tania, Gecz, Jozef, Liebelt, Jan E., Craig, Jamie E.
- Creator: Burdon, Kathryn P. , Durkin, Shane R. , Burke, Mary , Edwards, Matthew , Pater, John , Straga, Tania , Gecz, Jozef , Liebelt, Jan E. , Craig, Jamie E.
- Resource Type: journal article
- Date: 2009
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