Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
Get full text
Journal Article
Executive function deficits in children with fetal alcohol spectrum disorders (FASD) measured using the Cambridge Neuropsychological Tests Automated Battery (CANTAB)
Green, C.R., Mihic, A.M., Nikkel, S.M., Stade, B.C., Rasmussen, C., Munoz, D.P., Reynolds, J.N.
Published in Journal of child psychology and psychiatry (01.06.2009)
Published in Journal of child psychology and psychiatry (01.06.2009)
Get full text
Journal Article
Whole-exome sequencing expands the phenotype of Hunter syndrome
Nikkel, S.M., Huang, L., Lachman, R., Beaulieu, C.L., Schwartzentruber, J., Majewski, J., Geraghty, M.T., Boycott, K.M.
Published in Clinical genetics (01.08.2014)
Published in Clinical genetics (01.08.2014)
Get full text
Journal Article
Prenatal and post-mortem features of a case of Ritscher-Schinzel syndrome
Nikkel, S.M., Levi, C.S., Menticoglou, S., Phillips, S., Safneck, J., Chodirker, B.N.
Published in Genetics in medicine (01.01.2000)
Published in Genetics in medicine (01.01.2000)
Get full text
Journal Article
Methylmalonic aciduria, hyperhomocysteinemia, hematologic and/or neurologic abnormalities in 3 infants born to mothers with asymptomatic B12 deficiency
Nikkel, S.M., Mhanni, A., Dilling, L., Seargeant, L., Stobart, K., Rosenblatt, D., Gorlin, J.B., Korson, M.S., Greenberg, C.R., Prasad, C.
Published in Genetics in medicine (01.01.2000)
Published in Genetics in medicine (01.01.2000)
Get full text
Journal Article