Alexander L.J. Kneppers

Author

Also Known As

A Kneppers, A L Kneppers, A. L. J. Kneppers, A.L. J. Kneppers, A.L.J. Kneppers, Alexander Kneppers, Alexander L. J. Kneppers, Alexander L.J. Kneppers, Alexander LJ Kneppers

Publications

884

Citations

H-Index

Concepts

All Affiliations

Leiden University Medical Center Leiden University Erasmus University Rotterdam Cancer Genomics Centre Netherlands Forensic Institute

About

Alexander L.J. Kneppers is an author at Leiden University Medical Center specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	12	12	551
2	Biostatistics	4	4	206
3	Public Health	2	2	118
4	Hepatology	2	2	57
5	Genetic Medicine	1	1	59

Alexander L.J. Kneppers

Publications

812

Citations

H-Index

Page 1

	Year	Citations
Duplications in theDMD gene Stefan J. White, Annemieke Aartsma‐Rus, Kevin M. Flanigan, Human Mutation	2006	158
Familial Paget's disease in The Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations Elisabeth M. W. Eekhoff, Marcel Karperien, Daniel Houtsma, Arthritis & Rheumatism	2004	103
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family Ieke B. Ginjaar, Alexander L.J. Kneppers, Jan-Douwe M v d Meulen, European Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsVariable PhenotypesPathology	2000	87
Diagnostic <b>Notch3</b> sequence analysis in CADASIL: Three new mutations in Dutch patients Saskia A.J. Lesnik Oberstein, Michel D. Ferrari, Egbert Bakker, Neurology New MutationsMendelian DisorderGenetic DisorderMedicineGenetics	1999	79
Diagnosis of Duchenne and Becker Muscular Dystrophies by Polymerase Chain Reaction Jeffrey S. Chamberlain, Joel R. Chamberlain, Raymond G. Fenwick, JAMA Polymerase Chain ReactionGenetic TestingMultiplex MethodMendelian DisorderMedicine	1992	75
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol. A. J. van Essen, Alexander L.J. Kneppers, Annemarie H. van der Hout, Journal of Medical Genetics Carrier DetectionGeneticsBecker Muscular DystrophyMolecular BiologyMolecular Genetics	1997	59
DNAxs/DNAStatistX: Development and validation of a software suite for the data management and probabilistic interpretation of DNA profiles Corina C.G. Benschop, Jerry Hoogenboom, Pauline Hovers, Forensic Science International Genetics Dna ProfilesGeneticsDna AnalysisGenomicsGene Recognition	2019	59
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy H.B. Ginjaar, Anneke J. van der Kooi, H. Ceelie, Journal of Neurology Rare DiseasesUrologyPathologyDegenerative DiseaseNeuropathology	2000	56
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, biochemical and DNA analyses in a four-generation family M.G.E.M. Ausems, Egbert Bakker, R. Berger, American Journal of Medical Genetics 4-Generation FamilyOtc DeficiencyMendelian DisorderHepatologyA208t Mutation	1997	31
Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis Alexander L.J. Kneppers, Piëtte P. Deutz-Terlouw, Johan T. den Dunnen, Human Mutation Genetic AnalysisDystrophin GeneMendelian DisorderGenetic DisorderMedicine	1995	26

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