D. Cloosterman

发表

Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.

J. Gécz, C. Shoubridge, D. Cloosterman, 2007, Genomics.

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division

J. Gécz, T. Kleefstra, G. Mancini, 2010, PathoGenetics.

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

J. Gécz, C. Shoubridge, C. Hii, 2018, PloS one.

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

A. Clarke, J. Christodoulou, C. Zweier, 2012, American journal of medical genetics. Part A.

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

I. Scheffer, J. Gécz, J. Christodoulou, 2010, Twin Research and Human Genetics.

Progesterone and estrogen receptors segregate into different cell subpopulations in the normal human breast

J. Graham, C. Clarke, L. Huschtscha, 2012, Molecular and Cellular Endocrinology.

ARX: a gene for all seasons.

J. Gécz, M. Partington, D. Cloosterman, 2006, Current opinion in genetics & development.

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Robert L L Smith, S. Hardwick, J. Christodoulou, 2007, European Journal of Human Genetics.

Cyclin-Dependent Kinase-Like 5 ( CDKL 5 ) Mutation Screening in Rett Syndrome and Related Disorders

I. Scheffer, J. Gécz, J. Christodoulou, 2010 .