Anneke Maat‐Kievit

Author

Anneke Maat‐Kievit

Also Known As

A MAATKIEVIT, A Maat-Kievit, A Maat‐Kievit, A. Maat-Kievit, ANNEKE MAAT-KIEVIT, Anneke J A Maat-Kievit, Anneke J Maat-Kievit, Anneke J. Maat-Kievit, Anneke J. Maat‐Kievit, Anneke J.A. Maat-Kievit

Publications

2.7K

Citations

H-Index

Concepts

All Affiliations

Erasmus MC Erasmus University Rotterdam Leiden University Medical Center University Medical Center Utrecht Radboud University Nijmegen

About

Anneke Maat‐Kievit is an author at Erasmus MC specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	18	1.6K
2	Public Health	3	3	114
3	Social Sciences	3	3	261
4	Natural Sciences	1	1	42
5	Biostatistics	1	1	17

Anneke Maat‐Kievit

Publications

2.5K

Citations

H-Index

Page 1

	Year	Citations
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex Őzgür Sancak, Mark Nellist, Miriam Goedbloed, European Journal of Human Genetics Tuberous Sclerosis ComplexMolecular Diagnostic TechniquesDiagnostic Dna TechniquesGenetic DisorderMedicine	2005	481
A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M. de Graaf, The American Journal of Human Genetics Mendelian DisorderBrain DevelopmentGenetic DisorderPathologyDegenerative Disease	2003	291
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome Saskia M. Maas, Adam Shaw, Hennie Bikker, European Journal of Medical Genetics Tricho-rhino-phalangeal SyndromeGeneticsGenetic EpidemiologyGenetic Disorder	2015	119
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients C. T. R. M. Schrander‐Stumpel, Peter Meinecke, Golder N. Wilson, European Journal of Pediatrics MedicineFurther DelineationPathologyNeurologyNon-japanese Patients	1994	116
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype Esther Brusse, Inge de Koning, Anneke Maat‐Kievit, Movement Disorders New PhenotypeNeurological DisorderCorticobasal DegenerationGeneticsSocial Sciences	2005	115
Adverse Effects of Predictive Testing for Huntington Disease Underestimated: Long-Term Effects 7-10 Years After the Test. Reinier Timman, Raymund A.C. Roos, Anneke Maat‐Kievit, Health Psychology Beck Hopelessness ScalePsychological Co-morbiditiesGeneral Health QuestionnaireHealth PsychologyMental Health	2004	111
Unusually mild tuberous sclerosis phenotype is associated with<i>TSC2</i>R905Q mutation Anna Jansen, Őzgür Sancak, Daniela D’Agostino, Annals of Neurology	2006	103
Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel, Human Mutation	2011	92
<i>PRRT2</i>phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions Rianne van Vliet, Guido J. Breedveld, Johanneke de Rijk-van Andel, Neurology	2012	83
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations Mark Nellist, Rutger W. W. Brouwer, Christel Kockx, BMC Medical Genetics	2015	82

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