Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
Eiberg, H, Hansen, L, Kjer, B, Hansen, T, Pedersen, O, Bille, M, Rosenberg, T, Tranebjærg, L
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Genetic heterogeneity in Pakistani microcephaly families
Sajid Hussain, M, Marriam Bakhtiar, S, Farooq, M, Anjum, I, Janzen, E, Reza Toliat, M, Eiberg, H, Kjaer, KW, Tommerup, N, Noegel, AA, Nürnberg, P, Baig, SM, Hansen, L
Published in Clinical genetics (01.05.2013)
Published in Clinical genetics (01.05.2013)
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Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms
Thiel, S, Steffensen, R, Christensen, I J, Ip, W K, Lau, Y L, Reason, I J M, Eiberg, H, Gadjeva, M, Ruseva, M, Jensenius, J C
Published in Genes and immunity (01.03.2007)
Published in Genes and immunity (01.03.2007)
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RUNX2 analysis of Danish cleidocranial dysplasia families
Hansen, L, Riis, AK, Silahtaroglu, A, Hove, H, Lauridsen, E, Eiberg, H, Kreiborg, S
Published in Clinical genetics (01.03.2011)
Published in Clinical genetics (01.03.2011)
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Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
Ellard, S, Thomas, K, Edghill, E. L, Owens, M, Ambye, L, Cropper, J, Little, J, Strachan, M, Stride, A, Ersoy, B, Eiberg, H, Pedersen, O, Shepherd, M. H, Hansen, T, Harries, L. W, Hattersley, A. T
Published in Diabetologia (01.11.2007)
Published in Diabetologia (01.11.2007)
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Fasting and oral glucose-stimulated levels of glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) are highly familial traits
Gjesing, A. P., Ekstrøm, C. T., Eiberg, H., Urhammer, S. A., Holst, J. J., Pedersen, O., Hansen, T.
Published in Diabetologia (01.05.2012)
Published in Diabetologia (01.05.2012)
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Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study
Lund, M., Diaz, L. J., Gørtz, S., Feenstra, B., Duno, M., Juncker, I., Eiberg, H., Vissing, J., Wohlfahrt, J., Melbye, M.
Published in European journal of neurology (01.09.2014)
Published in European journal of neurology (01.09.2014)
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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
Kjaer, K W, Hansen, L, Schwabe, G C, Marques-de-Faria, A P, Eiberg, H, Mundlos, S, Tommerup, N, Rosenberg, T
Published in Journal of medical genetics (01.04.2005)
Published in Journal of medical genetics (01.04.2005)
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Genetic studies in congenital anterior midline cervical cleft
Jakobsen, L.P., Pfeiffer, P., Andersen, M., Eiberg, H., Hansen, L., Mang, Y., Bak, M., Møller, R.S., Klitten, L.L., Tommerup, N.
Published in American journal of medical genetics. Part A (01.08.2012)
Published in American journal of medical genetics. Part A (01.08.2012)
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Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation
Nielsen, J. E., Johnsen, B., Koefoed, P., Scheuer, K. H., Grønbech-Jensen, M., Law, I., Krabbe, K., Nørremølle, A., Eiberg, H., Søndergård, H., Dam, M., Rehfeld, J. F., Krarup, C., Paulson, O. B., Hasholt, L., Sørensen, S. A.
Published in European journal of neurology (01.12.2004)
Published in European journal of neurology (01.12.2004)
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A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
Kjaer, K W, Eiberg, H, Hansen, L, van der Hagen, C B, Rosendahl, K, Tommerup, N, Mundlos, S
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Linkage study of a large Danish 4-generation family with urge incontinence and nocturnal enuresis
Eiberg, H, Shaumburg, H L, Von Gontard, A, Rittig, S
Published in The Journal of urology (01.12.2001)
Published in The Journal of urology (01.12.2001)
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Loss of heterozygosity at 9q33 and hypermethylation of the DBCCR1 gene in oral squamous cell carcinoma
GAO, S, WORM, J, GULDBERG, P, EIBERG, H, KROGDAHL, A, SØRENSEN, J. A, LIU, C.-J, REIBEL, J, DABELSTEEN, E
Published in British journal of cancer (16.08.2004)
Published in British journal of cancer (16.08.2004)
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Polymorphic drug metabolizing CYP-enzymes - a pathogenic factor in oral lichen planus?
Kragelund, C., Hansen, C., Reibel, J., Nauntofte, B., Broesen, K., Pedersen, A. M. L., Smidt, D., Eiberg, H., Torpet, L. A.
Published in Journal of oral pathology & medicine (01.01.2009)
Published in Journal of oral pathology & medicine (01.01.2009)
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A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome
Hjermind, L E, Werdelin, L M, Eiberg, H, Krag-Olsen, B, Dupont, E, Sørensen, S A
Published in Neurology (13.05.2003)
Published in Neurology (13.05.2003)
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