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Jakob Ek
Rigshospitalet
,
Afdeling for Genetik
2004
2024
Publikationer pr. år
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Publikationer
(34)
Lignende profiler
(6)
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Dyk ned i forskningsemnerne, hvor Jakob Ek er aktive. Disse emneetiketter kommer fra dennes persons arbejder. Sammen danner de et unikt fingerprint.
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Keyphrases
Epilepsy
97%
Missense Variants
81%
Intellectual Disability
75%
Denmark
69%
Optic Atrophy 1 (OPA1)
64%
Dominant Optic Atrophy
64%
Early Onset
64%
Genotype
64%
Polymorphism
60%
Type 2 Diabetes Mellitus (T2DM)
56%
Pathogenic Variants
54%
Whole Genome Sequencing
48%
Glucose-tolerant
48%
Gestational Diabetes Mellitus
42%
Novel mutation
40%
Diabetes
40%
Previous Gestational Diabetes Mellitus
40%
Maturity-onset Diabetes of the Young
40%
Seizure
40%
Type 2 Diabetic Patients
40%
Biallelic
38%
Exome Sequencing
37%
Germ Cells
37%
ATP6V0C
32%
Glucose Transporter Type 1 Deficiency Syndrome
32%
Progressive Encephalopathy
32%
SLC2A1 mutation
32%
Congenital Disorders
32%
COG4
32%
Type I Diabetes
32%
Huppke-Brendel Syndrome
32%
MED13L
32%
Gene Variants
32%
TARS2
32%
Saul-Wilson Syndrome
32%
Type 1 Diabetes Mellitus (T1DM)
32%
Microvillus Inclusion Disease
32%
MYO5B
32%
Diabetic Nephropathy
32%
Genomic Deletion
32%
Age-related Macular Degeneration
32%
Macular
32%
Peripheral Drusen
32%
Nevoid Basal Cell Carcinoma Syndrome
32%
Ptch2
32%
Myoclonus-dystonia
32%
Cutis Laxa
32%
DYT11
32%
Lysyl Oxidase
32%
Krabbe Disease
32%
Biochemistry, Genetics and Molecular Biology
Missense
100%
Genetics
83%
Intellectual Disability
75%
Genotyping
69%
Exome Sequencing
49%
Dysplasia
48%
Fibroblast
40%
Enzyme
40%
Autosomal Dominant Inheritance
37%
Germ Cell
37%
Genetic Disorder
36%
Allele
33%
Peroxisome Proliferator-Activated Receptor Gamma
32%
Methylation
32%
Tuberous Sclerosis
32%
V-ATPase
32%
TSC2
32%
TSC1
32%
PTCH2
32%
Krabbe Disease
32%
Hepatocyte Nuclear Factor 1alpha
32%
Proteoglycan
32%
Glucose Test
32%
Glucose Tolerance Test
32%
Golgi Apparatus
32%
Lysyl Oxidase
32%
Glycosylation
32%
Vitamin B6
32%
Cell Function
32%
C-Peptide
32%
Body Height
32%
Mitochondrial Disease
32%
Hepatocyte Nuclear Factor 4 Alpha
32%
Ferroxidase
32%
Ceruloplasmin
32%
DNA Methylation
32%
CAG Repeat
32%
Coding Region
32%
Genetic Predisposition
32%
BAP1
32%
Tubulin
32%
Promoter Region
32%
Whole Genome Sequencing
26%
Gene Frequency
25%
Amino Acid Substitution
24%
All Cause Mortality
21%
Codon
20%
Insulin Blood Level
19%
Decorin
16%
Phosphatidylserine
16%
Medicine and Dentistry
Disease
80%
Symptom
64%
Autosomal Dominant Optic Atrophy
64%
Clinical Feature
40%
Stereotypic Movement Disorder
40%
Whole Genome Sequencing
38%
Epileptic Absence
38%
Diagnosis
38%
Nephrotic Syndrome
32%
Lung Transplantation
32%
Autosomal Recessive Inheritance
32%
Infancy
32%
Interstitial Lung Disease
32%
Opsoclonus Myoclonus Syndrome
32%
Myoclonic dystonia
32%
Epidermolysis bullosa
32%
Peroxisome Proliferator Activated Receptor Gamma 2
32%
Tuberous Sclerosis
32%
Mutational Analysis
32%
Gorlin Syndrome
32%
Monozygotic Twins
32%
Oculocutaneous Albinism
32%
Intestine Perforation
32%
Genetic Predisposition
32%
Microvillus
32%
Myoclonus
32%
Nodular Melanoma
32%
Patient with Type 1 Diabetes
32%
Myoclonic Astatic Epilepsy
32%
Wilson's Disease
32%
Pyridoxine
32%
Adenosine Triphosphatase
32%
Cutaneous Melanoma
32%
Glucose Transporter 1
32%
Diabetic Nephropathy
32%
Mouth
32%
End Stage Renal Disease
32%
Exome Sequencing
26%
Ataxia
22%
Epileptic Seizure
22%
Macrostomia
21%
Speech Disorder
21%
Macroglossia
21%
Autosomal Dominant Inheritance
21%
Prematurity
21%
Genetic Screening
20%
Ceruloplasmin
19%
Adenosine Triphosphate
16%
Immunoglobulin
16%
Family History
16%
