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(1 - 4 of 4)
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Olson, H.E.; Jean-Marcais, N.; Yang, E.; Heron, D.; Tatton-Brown, K.; Zwaag, P.A. van der; ... ; C4RCD Res Grp 2018
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Article / Letter to editor
open access
Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report
Scheltema, P.N.A. van; Zhang, A.; Ball, L.M.; Steggerda, S.J.; Wijk, R. van; Putte, D.E.F. van de; Kamp, I.L. van 2015
Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report
Article / Letter to editor
metadata only
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients
Putte, D.E.F. van de; Frankhuizen, W.S.; Vijfhuizen, L.; Groenewegen, L.; Tamminga, R.Y.J.; Bouman, K.; ... ; Boon, E.M.J. 2015
Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients
Article / Letter to editor
metadata only
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene
Coebergh, J.A.; Putte, D.E.F. van de; Snoeck, I.N.; Ruivenkamp, C.; Haeringen, A. van; Smit, L.M. 2014
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene
Article / Letter to editor
metadata only