A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

por Weisfeld-Adams, James D, Tkachuk, Amanda K, Maclean, Kenneth N, Meeks, Naomi L, Scott, Stuart A
Publicado 2016

A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype

por Weisfeld-Adams, James D, Tkachuk, Amanda K, Maclean, Kenneth N, Meeks, Naomi L, Scott, Stuart A
Publicado 2017

Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

por Weisfeld-Adams, James D, Mehta, Lakshmi, Rucker, Janet C, Dembitzer, Francine R, Szporn, Arnold, Lublin, Fred D, Introne, Wendy J, Bhambhani, Vikas, Chicka, Michael C, Cho, Catherine
Publicado 2013

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

por Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Publicado 2016

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Conso...

por Ah Mew, Nicholas, Cnaan, Avital, McCarter, Robert, Choi, Henry, Glass, Penny, Rice, Katie, Scavo, Louis, Gillespie, Catherine W., Diaz, George A., Berry, Gerard T., Wong, Derek, Konczal, Laura, McCandless, Shawn E., Coughlin II, Curtis R., Weisfeld-Adams, James D., Ficicioglu, Can, Yudkoff, Mark, Enns, Gregory M., Lichter-Konecki, Uta, Gallagher, Renata, Tuchman, Mendel
Publicado 2018

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

por Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M
Publicado 2013