Abeltje M. Polstra - Concepedia

Concepedia

Author

Abeltje M. Polstra

University of Amsterdam

Also Known As

A. Polstra, Abeltje M Polstra, Abeltje M. Polstra, Abeltje Polstra, Abeltje M. Polstra

31

Publications

1.1K

Citations

16

H-Index

33

Concepts

All Affiliations

University of Amsterdam Amsterdam University Medical Centers Amsterdam UMC Location University of Amsterdam Amsterdam UMC Location Vrije Universiteit Amsterdam Radboud University Nijmegen

AM

About

Abeltje M. Polstra is an author at University of Amsterdam specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	541
2	Public Health	1	1	110
3	Cellular Physiology	1	1	46
4	Child Development	1	1	281
5	Molecular Genetics	1	1	110

Abeltje M. Polstra

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20

Publications

1.1K

Citations

15

H-Index

	Year	Citations
Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands Ron Hochstenbach, Ellen van Binsbergen, J.J.M. Engelen, European Journal of Medical Genetics Developmental AnomalyEarly DiagnosisWorkflow ConsequencesCognitive DevelopmentPediatrics	2009	281
The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome? Daniela Q.C.M. Barge‐Schaapveld, Saskia M. Maas, Abeltje M. Polstra, American Journal of Medical Genetics Part A	2011	119
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions Jet Bliek, Simone Snijder, Saskia M. Maas, European Journal of Medical Genetics Allelic VariantDevelopmental BiologyMaternal TransmissionCytogeneticsMedicine	2009	110
Dynamics of Cytomegalovirus (CMV)–Specific T Cells in HIV‐1–Infected Individuals Progressing to AIDS with CMV End‐Organ Disease C. Bronke, N. Palmer, Christine A. Jansen, The Journal of Infectious Diseases	2005	62
<i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernández‐Quintero, Brain	2021	60
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity Nina De Rocker, Sarah Vergult, David A. Koolen, Genetics in Medicine ObesityMetabolic SyndromeMetabolic DisorderGenetic DisorderGenetics	2014	58
Development of real-time NASBA assays with molecular beacon detection to quantify mRNA coding for HHV-8 lytic and latent genes Abeltje M. Polstra, Jaap Goudsmit, Marion Cornelissen BMC Infectious Diseases	2002	51
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice Arjan C. Houweling, Glenda M. Beaman, Alex V. Postma, Journal of Clinical Investigation Cardiac MuscleCardiomyopathyDevelopmental BiologyMyocd ResultGenetic Disorder	2019	46
DNA Methylation Abundantly Associates with Fetal Alcohol Spectrum Disorder and its Subphenotypes Jan Maarten Cobben, I. Krzyzewska, Andrea Venema, Epigenomics	2019	45
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome Eline A. Verberne, Shuxiang Goh, Jade England, Genetics in Medicine Neurodevelopmental DisordersDown SyndromeRare DiseasesDevelopmental BiologyJarid2 Haploinsufficiency	2020	35

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