K. Rasmussen

发表

Association between combined properdin and mannose-binding lectin deficiency and infection with Neisseria meningitidis.

P. Garred, L. Bathum, C. Koch, 2006, Molecular immunology.

Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.

K. Brusgaard, T. Kruse, A. Kjeldsen, 2001, American journal of medical genetics.

Mutations in endoglin and in activin receptor‐like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia

K. Brusgaard, M. Hørder, T. Kruse, 2004, Clinical genetics.

Pharyngeal carriage of Neisseria meningitidis and Neisseria lactamica in households with infants within areas with high and low incidences of meningococcal disease

S. Larsen, S. Olsen, B. Djurhuus, 1991, Epidemiology and Infection.

Non-disjunction of chromosome 13.

C. Lundsteen, N. Tommerup, H. Eiberg, 2007, Human molecular genetics.

Silent hepatitis-B immunization in laboratory technicians.

E. Mortensen, J. Ingerslev, K. Rasmussen, 1988, Scandinavian journal of clinical and laboratory investigation.

Thrombophilic predisposition in stroke and venous thromboembolism in Danish patients.

M. Gaustadnes, J. Ingerslev, T. Larsen, 1999, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Mutation in Exon 15 of the Hydroxymethylbiiane Synthase Gene Identified in Two Danish Families with Acute Intermittent Porphyria

H. Nissen, K. Rasmussen, A. Brock, 2022 .

Intermediate and Severe Hyperhomocysteinemia with Thrombosis: A Study of Genetic Determinants

M. Gaustadnes, J. Ingerslev, N. Rüdiger, 2000, Thrombosis and Haemostasis.

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Kim R. Rasmussen, C. Lundsteen, N. Tommerup, 2000, Journal of medical genetics.

An excess of chromosome 1 breakpoints in male infertility

R. Stallings, C. Lundsteen, Z. Tümer, 2004, European Journal of Human Genetics.

Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome

Z. Tümer, N. Tommerup, L. Larsen, 2005, American journal of medical genetics. Part A.

The FSHD‐linked locus D4F104S1 (p13E‐11) ON 4q35 has a homologue on 10qter

C. Wijmenga, R. Vossen, E. Bakker, 1995, Muscle & nerve. Supplement.

Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation.

M. Gaustadnes, J. Ingerslev, N. Rüdiger, 2000, Arteriosclerosis, thrombosis, and vascular biology.

Hereditary spastic paraplegia caused by the PLP1 ‘rumpshaker mutation’

C. Crone, I. Law, O. Boespflug-Tanguy, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

J. Hilden, C. Lundsteen, N. Tommerup, 2006, European Journal of Human Genetics.

De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome

M. Petersen, I. Pedersen, A. Ernst, 2016, Molecular Syndromology.

Linkage and chromosome study of multiple endocrine neoplasia IIa.

G. B. Petersen, K. Emmertsen, L. Lamm, 1983, Cancer genetics and cytogenetics.

R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria.

M. Hørder, H. Nissen, N. E. Petersen, 1996, Clinical chemistry.

DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria.

O. Hother-Nielsen, N. E. Petersen, K. Rasmussen, 2000, Scandinavian Journal of Clinical and Laboratory Investigation.