What’s new in pontocerebellar hypoplasia? An update on genes and subtypes

gan van Dijk, Tessa, Baas, Frank, Barth, Peter G., Poll-The, Bwee Tien
Cyhoeddwyd yn Orphanet J Rare Dis (2018)

Macro-Invertebrate Decline in Surface Water Polluted with Imidacloprid

gan Van Dijk, Tessa C., Van Staalduinen, Marja A., Van der Sluijs, Jeroen P.
Cyhoeddwyd 2013

Does artemether–lumefantrine administration affect mosquito olfactory behaviour and fitness?

gan de Boer, Jetske G., Busula, Annette O., ten Berge, Jet, van Dijk, Tessa S., Takken, Willem
Cyhoeddwyd yn Malar J (2019)

Informing Parents about Newborn Screening: A European Comparison Study

gan IJzebrink, Amber, van Dijk, Tessa, Franková, Věra, Loeber, Gerard, Kožich, Viktor, Henneman, Lidewij, Jansen, Marleen
Cyhoeddwyd yn Int J Neonatal Screen (2021)

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

gan van Dijk, Tessa, Vermeij, Jan-Dirk, van Koningsbruggen, Silvana, Lakeman, Phillis, Baas, Frank, Poll-The, Bwee Tien
Cyhoeddwyd yn J Inherit Metab Dis (2018)

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

gan van Dijk, Tessa, van Ruissen, Fred, Jaeger, Bregje, Rodenburg, Richard J., Tamminga, Saskia, van Maarle, Merel, Baas, Frank, Wolf, Nicole I., Poll-The, Bwee Tien
Cyhoeddwyd yn JIMD Rep (2016)

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1

gan Jacobsen, Jessie C., Glamuzina, Emma, Taylor, Juliet, Swan, Brendan, Handisides, Shona, Wilson, Callum, Fietz, Michael, van Dijk, Tessa, Appelhof, Bart, Hill, Rosamund, Marks, Rosemary, Love, Donald R., Robertson, Stephen P., Snell, Russell G., Lehnert, Klaus
Cyhoeddwyd yn Case Rep Genet (2015)

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

gan van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P. N., Alders, Mariëlle, Mathijssen, Inge B., Parboosingh, Jillian S., Innes, A. Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Francois P., Wanders, Ronald J. A., Lamont, Ryan E., Baas, Frank
Cyhoeddwyd yn Eur J Hum Genet (2018)

Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

gan Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W, Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R., Pagnamenta, Alistair, Wenninger-Weinzier, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C, Terrone, Gaetano, Vitiello, Giuseppina, Giudice, Ennio Del, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A., Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A., Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M., Cooper, Gregory M., Aldinger, Kimberly A, Dobyns, William B, Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J., Keays, David Anthony
Cyhoeddwyd yn Neuron (2018)