Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A

Por Joenje, Hans, Levitus, Marieke, Waisfisz, Quinten, D’Andrea, Alan, Garcia-Higuera, Irene, Pearson, Tommy, van Berkel, Carola G. M., Rooimans, Martin A., Morgan, Neil, Mathew, Christopher G., Arwert, Fré
Publicado em 2000

eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

Por van der Knaap, Marjo S., van Berkel, Carola G. M., Herms, Jochen, van Coster, Rudy, Baethmann, Martina, Naidu, Sakkubai, Boltshauser, Eugen, Willemsen, Michèl A. A. P., Plecko, Barbara, Hoffmann, Georg F., Proud, Christopher G., Scheper, Gert C., Pronk, Jan C.
Publicado em 2003

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Por Kevelam, Sietske H., Rodenburg, Richard J., Wolf, Nicole I., Ferreira, Patrick, Lunsing, Roelineke J., Nijtmans, Leo G., Mitchell, Anne, Arroyo, Hugo A., Rating, Dietz, Vanderver, Adeline, van Berkel, Carola G.M., Abbink, Truus E.M., Heutink, Peter, van der Knaap, Marjo S.
Publicado em 2013

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Por Hamilton, Eline M., Polder, Emiel, Vanderver, Adeline, Naidu, Sakkubai, Schiffmann, Raphael, Fisher, Kate, Raguž, Ana Boban, Blumkin, Luba, van Berkel, Carola G. M., Waisfisz, Quinten, Simons, Cas, Taft, Ryan J., Abbink, Truus E. M., Wolf, Nicole I., van der Knaap, Marjo S.
Publicado no Brain (2014)

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Por Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.
Publicado no Front Neurol (2016)

Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene

Por de Winter, Johan P., Léveillé, France, van Berkel, Carola G. M., Rooimans, Martin A., van der Weel, Laura, Steltenpool, Jurgen, Demuth, Ilja, Morgan, Neil V., Alon, Noa, Bosnoyan-Collins, Lucine, Lightfoot, Jeff, Leegwater, Peter A., Waisfisz, Quinten, Komatsu, Kenshi, Arwert, Fré, Pronk, Jan C., Mathew, Christopher G., Digweed, Martin, Buchwald, Manuel, Joenje, Hans
Publicado em 2000

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Por Kevelam, Sietske H, Taube, Jennifer R, van Spaendonk, Rosalina M L, Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A, Bernard, Geneviève, Catsman-Berrevoets, Coriene E, van Karnebeek, Clara D M, Østergaard, John R, Friederich, Richard L, Fawzi Elsaid, Mahmoud, Schieving, Jolanda H, Tarailo-Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E, van Berkel, Carola G M, Waisfisz, Quinten, Abbink, Truus E M, van der Knaap, Marjo S, Hobson, Grace M, Wolf, Nicole I
Publicado no Ann Clin Transl Neurol (2015)