about
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsPUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresCHD2 mutations in Lennox-Gastaut syndrome.Friedreich ataxia in Norway - an epidemiological, molecular and clinical studyFILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.Aicardi syndrome: an epidemiologic and clinical study in Norway.Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study.A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.Novel UCHL1 mutations reveal new insights into ubiquitin processing.[Glucose transporter protein type 1 (GLUT-1) deficiency syndrome].A founder mutation p.H701P identified as a major cause of SPG7 in Norway.Novel UCHL1 mutations reveal new insights into ubiquitin processing.Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+Genome-wide linkage analysis with clustered SNP markersAutosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS geneSCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features[Juvenile myoclonic epilepsy]Modified Atkins diet may reduce serum concentrations of antiepileptic drugsOccurrence of GLUT1 deficiency syndrome in patients treated with ketogenic dietMicrobiota-gut brain axis involvement in neuropsychiatric disordersPhenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Kaja K Selmer
@en
Kaja K Selmer
@es
Kaja K Selmer
@nl
Kaja Kristine Selmer
@pt
type
label
Kaja K Selmer
@en
Kaja K Selmer
@es
Kaja K Selmer
@nl
Kaja Kristine Selmer
@pt
altLabel
Kaja Kristine Selmer
@en
prefLabel
Kaja K Selmer
@en
Kaja K Selmer
@es
Kaja K Selmer
@nl
Kaja Kristine Selmer
@pt
P106
P21
P31
P496
0000-0003-4871-112X