Frans A. Hol - Concepedia

Author

Frans A. Hol

Radboud University Nijmegen

Also Known As

F A Hol, F Hol, F. A. HOL, F. A. Hol, F. HOL, F. Hol, F.A. Hol, FRANS A. HOL, Frans A Hol, Frans A. Hol

Publications

2.4K

Citations

H-Index

Concepts

All Affiliations

Radboud University Nijmegen Radboud University Medical Center Maastricht University Leiden University Rutgers, The State University of New Jersey

About

Frans A. Hol is an author at Radboud University Nijmegen specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	16	948
2	Natural Sciences	3	3	176
3	Social Sciences	2	2	108
4	Public Health	1	1	33
5	Biochemistry	1	1	36

Frans A. Hol

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
Mapping a gene for Noonan syndrome to the long arm of chromosome 12 C. Ruth Jamieson, Ineke van der Burgt, Angela F. Brady, Nature Genetics ChromatinDevelopmental BiologyCytogeneticsGenetic DisorderGenetics	1994	289
Mitochondrial disease criteria Éva Morava, Lambertus P. van den Heuvel, Frans A. Hol, Neurology	2006	272
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate‐dehydrogenase, methenyltetrahydrofolate‐cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects Frans A. Hol, Nathalie MJ van der Put, M.P.A. Geurds, Clinical Genetics	1998	155
Susceptibility to spina bifida; an association study of five candidate genes Katie Morrison, Charalambos Papapetrou, Frans A. Hol, Annals of Human Genetics	1998	116
A novel mitochondrial <i>ATP8</i> gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy An I. Jonckheere, Marije Hogeveen, Leo Nijtmans, Journal of Medical Genetics	2007	116
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome Klara Flipsen-ten Berg, Peter M. van Hasselt, Marc J. Eleveld, European Journal of Human Genetics Genetic DisorderGeneticsPathologyChromosome 4PMolecular Genetics	2007	110
Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis Marije M. Löwik, Frans A. Hol, E. J. Steenbergen, Nephrology Dialysis Transplantation	2004	81
Genotype-phenotype correlations in MYCN-related Feingold syndrome Carlo Marcelis, Frans A. Hol, Gail E. Graham, Human Mutation	2008	76
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations Éva Morava, Richard J. Rodenburg, Frans A. Hol, American Journal of Medical Genetics Part A Muscle TissueComplex V ActivityNeurological DisorderGeneticsBiochemical Characteristics	2006	76
Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family Carolien G. F. de Kovel, Frans A. Hol, J. G. A. M. Heister, Journal of Medical Genetics	2004	74

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