L. A. Sandkuyl - Concepedia

Author

L. A. Sandkuyl

Also Known As

L A Sandkuyl, L Sandkuyl, L. A. SANDKUYL, L. A. Sandkuyl, L. Sandkuyl, L.A. Sandkuyl, Lodewijk A. Sandkuyl, Lodewijk Sandkuyl, Sandkuyl, Lodewijk A.

Publications

1.4K

Citations

H-Index

Concepts

All Affiliations

Columbia University Erasmus University Rotterdam Rotterdam University of Applied Sciences Leiden University Leiden University Medical Center

About

L. A. Sandkuyl is an author at Columbia University specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	16	1.2K
2	Public Health	3	3	95
3	Health Sciences	2	2	99
4	Natural Sciences	1	1	122
5	Allergy	1	1	21

L. A. Sandkuyl

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs Egbert Bakker, Nicole Goor, Klaus Wrogemann, The Lancet PediatricsDiagnosisDegenerative DiseasePrenatal DiagnosisPrenatal Testing	1985	376
Tissue-specific splicing mutation in acute intermittent porphyria. Bernard Grandchamp, C. Picat, Vincent Mignotte, Proceedings of the National Academy of Sciences BiologyGenetic DisorderNatural SciencesGeneticsPathogenesis	1989	122
Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization Cisca Wijmenga, George W. Padberg, Petra Moerer, Genomics Mendelian DisorderGenetic DisorderGeneticsLinkage AnalysisMultipoint Linkage Analysis	1991	119
A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance. M. P. Klinkhamer, Nicole A. Groen, Gerard C. van der Zon, The EMBO Journal Insulin ResistanceMetabolic SyndromeMolecular PharmacologyInsulin SignalingMedicine	1989	78
Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity E. J. B. M. Mensink, A. Thompson, J. D. L. Schot, Human Genetics Genetic AnalysisAllelic VariantX-linked AgammaglobulinemiaGenetic DisorderMedicine	1986	63
Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus Sau‐Ping Kwan, Joseph D. Terwilliger, Robin Parmley, Genomics Genetic DisorderGeneticsPathologyMolecular GeneticsDisease Gene Identification	1990	61
Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers Sau‐Ping Kwan, L. A. Sandkuyl, Michael Blaese, Genomics Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyMolecular Genetics	1988	59
X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus E. J. B. M. Mensink, A. Thompson, L. A. Sandkuyl, Human Genetics Primary ImmunodeficiencyImmunogeneticsAutoimmune DiseaseX-linked ImmunodeficiencyImmunodeficiencies	1987	54
Genetic heterogeneity in tuberous sclerosis L. A. J. JANSSEN, L. A. Sandkuyl, E. C. MERKENS, Genomics Mendelian DisorderGenetic DisorderGeneticsGenetic HeterogeneityMedicine	1990	53
Chromosome studies of 500 couples with two or more abortions. E. S. Sachs, M. G. J. Jahoda, J. O. Van Hemel, PubMed Karyotype ImagingChromosome StudiesFertilityAbortionCytogenetics	1985	50

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