about
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathyMutations in SEPT9 cause hereditary neuralgic amyotrophyResequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel diseaseGenetic variation in the KIF1B locus influences susceptibility to multiple sclerosisMultiplex Amplicon Quantification (MAQ), a fast and efficient method for the simultaneous detection of copy number alterations in neuroblastomaSequencing of DISC1 pathway genes reveals increased burden of rare missense variants in schizophrenia patients from a northern Swedish population.A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.Trinucleotide repeat expansions: do they contribute to bipolar disorder?Strong evidence that GNB1L is associated with schizophrenia.The skin microbiome of caspase-14-deficient mice shows mild dysbiosis.A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families.Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness.No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samplesMutations in SACS cause atypical and late-onset forms of ARSACS.Detailed analysis of the serotonin transporter gene (SLC6A4) shows no association with bipolar disorder in the Northern Swedish population.Response of DNA fragments to potentiometric sensors studied using HPLC.Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA.Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder.Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALSSupport for NRG1 as a Susceptibility Factor for Schizophrenia in a Northern Swedish Isolated PopulationChromosome 10q harbors a susceptibility locus for bipolar disorder in Ashkenazi Jewish familiesProgranulin locus deletion in frontotemporal dementiaGene copy number variation in schizophreniaGenome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutationNo evidence for the involvement of CAG/CTG repeats from within 18q21.33–q23 in bipolar disorderIsolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentationTP53 Outperforms Other Androgen Receptor Biomarkers to Predict Abiraterone or Enzalutamide Outcome in Metastatic Castration-Resistant Prostate Cancer
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Dirk Goossens
@en
Dirk Goossens
@es
Dirk Goossens
@nl
Dirk Goossens
@sl
type
label
Dirk Goossens
@en
Dirk Goossens
@es
Dirk Goossens
@nl
Dirk Goossens
@sl
prefLabel
Dirk Goossens
@en
Dirk Goossens
@es
Dirk Goossens
@nl
Dirk Goossens
@sl
P106
P21
P31
P496
0000-0002-2080-7464