Research output per year
Research output per year
Personal profile
Keywords
- Faculty of Health and Medical Sciences
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Dive into the research topics where Klaus Wilbrandt Kjær is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 6 Similar Profiles
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A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
Abdullah, U., Farooq, M., Mang, Y., Marriam Bakhtiar, S., Fatima, A., Hansen, L., Kjaer, K. W., Larsen, L. A., Faryal, S., Tommerup, N. & Mahmood Baig, S., Dec 2017, In: European Journal of Medical Genetics. 60, 12, p. 627-630 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis
Andersen, M. R., Farooq, M., Rasmussen, K. K., Kjaer, K. W., Simony, A., Christensen, S. T. & Larsen, L. A., 15 Jun 2017, In: Spine. 42, 12, p. E702–E707 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family
Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, K. W., Baig, S. M., Larsen, L. A. & Tommerup, N., 1 Mar 2016, In: Journal of Human Genetics. 61, 3, p. 271-273 3 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
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Microduplications encompassing the Sonic Hedgehog Limb Enhancer ZRS are Associated with Haas Type Polysyndactyly and Laurin-Sandrow Syndrome
Lohan, S., Spielmann, M., Doelken, S. C., Flöttmann, R., Farooq, M., Baig, S. M., Wajid, M., Hülsemann, W., Habenicht, R., Kjaer, K. W., Patil, S. J., Girisha, K. M., Abarca-Barriga, H. H., Mundlos, S. & Klopocki, E., Oct 2014, In: Clinical Genetics. 86, 4, p. 318-325 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family
Farooq, M., Nakai, H., Fujimoto, A., Fujikawa, H., Kjaer, K. W., Baig, S. M. & Shimomura, Y., Nov 2013, In: Human Genetics. 132, 11, p. 1253-1264 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Genetic heterogeneity in Pakistani microcephaly families
Sajid Hussain, M., Bakhtiar, S. M., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, H., Kjaer, K. W., Tommerup, N., Noegel, A. A., Nürnberg, P., Baig, S. M. & Hansen, L., May 2013, In: Clinical Genetics. 83, 5, p. 446-51 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations
Basel-Vanagaite, L., Pasmanik-Chor, M., Lurie, R., Yeheskel, A. & Kjær, K. W., May 2011, In: Molecular Syndromology. 1, 5, p. 223-230 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1
Farooq, M., Baig, S., Tommerup, N. & Kjaer, K. W., Feb 2010, In: American Journal of Medical Genetics. Part A. 152A, 2, p. 495-7 2 p.Research output: Contribution to journal › Journal article › Research › peer-review