K. Haug

发表

Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.

Christian E Elger, Rolf Schröder, C. Elger, 2002, Human molecular genetics.

Interleukin‐1β gene polymorphism and susceptibility to temporal lobe epilepsy with hippocampal sclerosis

S. Horvath, C. Elger, A. Heils, 2000, Annals of neurology.

The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy.

C. Elger, A. Heils, P. Propping, 2000, Neuroreport.

CLCN2 variants in idiopathic generalized epilepsy

Christian E Elger, Holger Lerche, Bernd Giese, 2009, Nature Genetics.

The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy

C. Elger, A. Heils, P. Propping, 2001, Epilepsy Research.

[Determination of the activated proto-oncogene (Ki-ras) in feces. A new laboratory analysis for early diagnosis of colorectal cancer].

O. Røkke, J. Koornstra, K. Haug, 1995, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: a new syndrome?

E. Merz, K. Haug, D. Schäfer, 2001, American journal of medical genetics.

No evidence for association between the KCNQ3 gene and susceptibility to idiopathic generalized epilepsy

S. Horvath, C. Elger, A. Heils, 2000, Epilepsy Research.

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.

Uwe Runge, A. Heils, O. Steinlein, 2002, Archives of neurology.

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

S. Horvath, C. Elger, H. Lerche, 2003, Nature Genetics.

Association analysis between a regulatory-promoter polymorphism of the human monoamine oxidase A gene and idiopathic generalized epilepsy

C. Elger, A. Heils, P. Propping, 2000, Epilepsy Research.

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.

A. Heils, M. Meisler, T. Sander, 2001, American journal of human genetics.

Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy.

C. Elger, A. Heils, A. Barnekow, 2000, Molecular and cellular probes.

In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate

B. Wirth, T. Klockgether, L. Brichta, 2006, Annals of neurology.

Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

S. Horvath, C. Elger, H. Lerche, 2003, Nature Genetics.

OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.

K. Haug, Saima Khan, R. König, 2000, American journal of medical genetics.

Diagnostic accuracy of random massively parallel sequencing for non‐invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

M. Hempel, M. Wüstemann, R. Zimmermann, 2014, Prenatal diagnosis.

Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema.

T. Haaf, H. Engels, U. Zechner, 2009, European journal of medical genetics.

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

G. Rappold, K. Haug, W. Friedl, 2000, Journal of medical genetics.

Interleukin-1beta gene polymorphism and susceptibility to temporal lobe epilepsy with hippocampal sclerosis.

C. Elger, A. Heils, P. Propping, 2000, Annals of neurology.