Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

por Verhoeven, Willem MA, Egger, Jos IM, Knegt, Alida C, Zuydam, José, Kleefstra, Tjitske
Publicado 2016

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

por Huijsdens-van Amsterdam, Karin, Barge-Schaapveld, Daniela QCM, Mathijssen, Inge B, Alders, Mariëlle, Pajkrt, Eva, Knegt, Alida C
Publicado 2012

Prenatal sonographic features can accurately determine parental origin in triploid pregnancies

por Lugthart, Malou A., Horenblas, Judith, Kleinrouweler, Emily C., Engels, Melanie, Knegt, Alida C., Huijsdens, Karin, van Leeuwen, Elisabeth, Pajkrt, Eva
Publicado 2020

Genetic basis of hyperlysinemia

por Houten, Sander M, te Brinke, Heleen, Denis, Simone, Ruiter, Jos PN, Knegt, Alida C, de Klerk, Johannis BC, Augoustides-Savvopoulou, Persephone, Häberle, Johannes, Baumgartner, Matthias R, Coşkun, Turgay, Zschocke, Johannes, Sass, Jörn Oliver, Poll-The, Bwee Tien, Wanders, Ronald JA, Duran, Marinus
Publicado 2013

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

por van Nisselrooij, Amber E. L., Lugthart, Malou A., Clur, Sally-Ann, Linskens, Ingeborg H., Pajkrt, Eva, Rammeloo, Lukas A., Rozendaal, Lieke, Blom, Nico A., van Lith, Jan M. M., Knegt, Alida C., Hoffer, Mariëtte J. V., Aten, Emmelien, Santen, Gijs W. E., Haak, Monique C.
Publicado 2020