I. van der Bürgt - Concepedia

Author

I. van der Bürgt

Also Known As

I Van Der Burgt, I Van der Burgt, I van der Burgt, I. Van Der Burgt, I. Van der Burgt, I. v. d. Burgt, I. van der Burgt, I. van der Bürgt, Ineke van der Burgt, Van Der Burgt, I.

Publications

2.1K

Citations

H-Index

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center Maastricht University Medical Centre KU Leuven Goethe University Frankfurt

About

I. van der Bürgt is an author at Radboud University Nijmegen specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	12	13	893
2	Public Health	2	2	68
3	Education	1	1	15
4	Engineering	1	1	142
5	Health Sciences	1	1	56

I. van der Bürgt

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
Normal phenotype in two brothers with a full FMR1 mutation H. J. M. Smeets, Anne Smits, Coleta Verheij, Human Molecular Genetics Epigenetic ChangeGeneticsPathologyMolecular GeneticsDisease Gene Identification	1995	178
Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis Brigitte H. W. Faas, I. van der Bürgt, Angelique J. A. Kooper, Journal of Medical Genetics	2010	144
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, Human Molecular Genetics EngineeringGeneticsPathologyMolecular GeneticsRas Genes	2014	142
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
Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome AL Schulz, Beate Albrecht, I. van der Bürgt, Clinical Genetics	2007	108
<i><scp>MLL2</scp></i> mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study Periklis Makrythanasis, Bregje W.M. van Bon, Marloes Steehouwer, Clinical Genetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics	2013	102
A 2‐bp deletion in the <i>GJA1</i> gene is associated with oculo‐dento‐digital dysplasia with palmoplantar keratoderma Maurice A. M. Van Steensel, Liesbeth Spruijt, I. van der Bürgt, American Journal of Medical Genetics Part A Mendelian DisorderGenetic DisorderMedicineGeneticsPathogenesis	2004	79
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. Ben C.J. Hamel, Anja Raams, A R Schuitema-Dijkstra, Journal of Medical Genetics Cockayne Syndrome ComplexGeneticsPathologyDermatologyGenetic Medicine	1996	75
Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment C. Noordam, I. van der Bürgt, Fred C.G.J. Sweep, Clinical Endocrinology Body CompositionHealth SciencesGrowth HormoneHuman GrowthPhysiology	2001	56
Impaired Sertoli Cell Function in Males Diagnosed with Noonan Syndrome Karen A. Marcus, Fred C.G.J. Sweep, I. van der Bürgt, Journal of Pediatric Endocrinology and Metabolism FertilityImmunologyPathologyMenstrual CycleReproductive Biology	2008	47

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