J P Fryns - Concepedia

Author

J P Fryns

KU Leuven

Also Known As

J FRYNS, J P FRYNS, J P Fryns, J. -P. Fryns, J. Fryns, J. P. Fryns, J.-P. Fryns, J.P. FRYNS, J.P. Fryns, J.‐P. FRYNS

109

Publications

3.4K

Citations

H-Index

103

Concepts

All Affiliations

KU Leuven Maastricht University Medical Centre Maastricht University Radboud University Nijmegen Ghent University Hospital

About

J P Fryns is an author at KU Leuven specializing in medicine, pathology, and pediatrics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	28	1.7K
2	Health Sciences	2	2	65
3	Public Health	2	2	353
4	Education	1	1	12
5	Natural Sciences	1	1	23

J P Fryns

Publications

2.8K

Citations

H-Index

Page 1

	Year	Citations
GATA3 haplo-insufficiency causes human HDR syndrome Hilde Van Esch, Peter Groenen, M. Andrew Nesbit, Nature Autoimmune DiseaseGenetic DisorderGeneticsInherited Metabolic DiseaseHematology	2000	645
Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen, European Journal of Human Genetics Clinical EpidemiologyPediatricsPrader–willi SyndromePublic HealthBirth Incidence	2003	184
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate Evelyne Vanneste, Thierry Voet, Cindy Melotte, Human Reproduction Genetic TestingFertilityCytogeneticsGeneticsPreimplantation Genetic Testing	2009	169
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome Yanyan Jiang, Muriel Rigolet, Déborah Bourc’his, Human Mutation	2004	132
Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome Bernard Thienpont, Frédérique Béna, Jeroen Breckpot, Journal of Medical Genetics	2009	123
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
Pathogenesis of congenital cystic adenomatoid malformation of the lung P. Moerman, J P Fryns, Kamiel Vandenberghe, Histopathology Developmental AnomalyEar MoldingPediatricsPathologyPediatric Lung Disease	1992	94
Fetal Akinesia Sequence Caused by Nemaline Myopathy Martin Lammens, Ph. Moerman, J P Fryns, Neuropediatrics Developmental AnomalyPatients Nemaline MyopathyFetal Akinesia SequenceGenetic DisorderHistopathology	1997	73
Cri du chat syndrome: Changing phenotype in older patients G.J.C.M. van Buggenhout, E Pijkels, Maureen Holvoet, American Journal of Medical Genetics	2000	70
The <i>C20orf133</i> gene is disrupted in a patient with Kabuki syndrome Nicole Maas, Tom Van de Putte, Cindy Melotte, Journal of Medical Genetics	2007	70

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