Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
- 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
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
- 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