Biochemistry, Genetics and Molecular Biology
Genetic Screening
100%
Allele
82%
Exon
71%
Proband
65%
Prevalence
65%
Genotyping
60%
Exome Sequencing
52%
Haplotype
39%
Autosomal Recessive Disorder
39%
Autosomal Recessive Inheritance
39%
Enzyme
34%
CAPN3
32%
SMN1
32%
Missense
30%
Calpain-3
26%
Protease Inhibitor
26%
Array Comparative Genomic Hybridization
26%
Chromosomal Aberration
26%
Bernard-Soulier Syndrome
26%
Leigh's Disease
26%
Light Chain
26%
Codon
26%
Gamma-Glutamyl Transpeptidase
26%
Genotype Phenotype Correlation
26%
Embryogenesis
26%
Copper Metabolism
26%
Microdeletion Syndrome
26%
GSTT1
26%
GSTP1
26%
Neurofilament Light
26%
Blood Plasma
26%
Alkaline Phosphatase
26%
Phenotypic Variation
26%
First Trimester Pregnancy
26%
HDAC8
26%
Chromosomal Translocation
26%
LAMP2
26%
Genetic Disorder
26%
Offspring
26%
Next Generation Sequencing
24%
Multiplex Ligation-Dependent Probe Amplification
21%
Exome
18%
Peripheral Myelin Protein 22
17%
Skeletal Muscle
16%
Chromosomal Abnormalities
16%
Locked Nucleic Acid
13%
Glycogen Branching Enzyme
13%
Real-Time Polymerase Chain Reaction
13%
DNA Isolation
13%
Karyotyping
13%
Medicine and Dentistry
Myokymia
78%
DeJerine-Sottas Disease
76%
Genetic Disorder
65%
Polyneuropathy
63%
Autosomal Recessive Inheritance
54%
Peripheral Nervous System
47%
Disease Course
32%
Spinal Muscular Atrophy
32%
Prevalence
32%
Neurofilament
26%
Light Chain
26%
Kidney Tubule Disorder
26%
Clinical Management
26%
Patient Referral
26%
Ataxia
26%
Sensorineural Hearing Loss
26%
Leigh's Disease
26%
Biological Marker
26%
Molecular Diagnosis
26%
Nephrocalcinosis
26%
Amelogenesis Imperfecta
26%
Perampanel
26%
Developmental Delay
26%
Status Epilepticus
26%
Phenotypic Variation
26%
Dysmorphic Feature
26%
Glycogen Storage Disease Type IV
26%
Vital Sign
26%
Gene Mutation
26%
Awareness
26%
Fibrillation
21%
Fasciculation
21%
Echography
21%
Ulnar Nerve
21%
Median Nerve
21%
Verbal Memory
19%
Disease Severity
19%
Weakness
16%
Muscle Rigidity
15%
Exon
15%
Genetic Screening
13%
Prenatal Diagnosis
13%
Visual Memory
13%
Memory Disorder
13%
Achilles Reflex
13%
Pes cavus
13%
Thomsen Disease
13%
Offspring
13%
Receptor
13%
Foot Malformation
13%