Biochemistry, Genetics and Molecular Biology
Exome Sequencing
100%
Sanger Sequencing
63%
Next Generation Sequencing
58%
Exon
51%
Exome
49%
Loss of Function Mutation
49%
Genetic Screening
43%
Genotype Phenotype Correlation
41%
Proband
41%
Missense Mutation
40%
Promoter Region
32%
Retinitis pigmentosa
32%
Germline Mutation
32%
Autosomal Recessive Inheritance
26%
Germline
23%
Germ Cell
23%
Mental Retardation
20%
Methylation
20%
Nonsense Mutation
16%
MicroRNA
16%
Bloom Syndrome
16%
SUFU
16%
Whole Genome Sequencing
16%
Compound Heterozygosity
16%
HRAS
16%
Gene Deletion
16%
IRF6
16%
Complement Lectin Pathway
16%
Autosomal Recessive Disorder
16%
Actin
16%
Karyotype
16%
DNA Sequence
16%
Amelogenesis
16%
Gene Mutation
16%
ORAI1
16%
Ligase
16%
Histone Acetyltransferase
16%
PTCH1
16%
Cullin
16%
MACF1
16%
Karyotype 46,XX
16%
Small Nucleolar RNA
16%
RAC1
16%
Bestrophin 1
16%
Transcription Factors
16%
Genome Sequencing
16%
Mydriasis
16%
Transcription Factor Onecut
16%
Splicing Factor
16%
RNase P
16%
Medicine and Dentistry
Diseases
26%
Gain of Function Mutation
20%
Programmed Cell Death
19%
Next Generation Sequencing
18%
Differential Diagnosis
18%
Primary Ovarian Insufficiency
16%
Somatics
16%
Dermatofibroma
16%
B Cell
16%
Congenital Cataract
16%
Head and Neck Carcinoma
16%
Personalized Diagnosis
16%
Fibrosarcoma
16%
microRNA
16%
Retina Dystrophy
16%
Interferon
16%
Channel Gating
16%
Pernio
16%
Protein Kinases
16%
Lupus Erythematosus
16%
Protein Kinase C
16%
Melanocytosis
16%
Myopathy
16%
Jugular Foramen
16%
Choroideremia
16%
Pterygium
16%
Coloboma
16%
Mydriasis
16%
Kidney Malformation
16%
Systemic Lupus Erythematosus
16%
Microcephaly
16%
Amelogenesis Imperfecta
16%
Interferon Type I
16%
Bloom Syndrome
16%
Fanconi Anemia
16%
Ligase
16%
Genetic Screening
14%
Malignant Neoplasm
12%
In Vitro
11%
Epileptic Seizure
10%
Neoplasm
10%
Neurologic Disease
10%
Diagnosis
8%
Molecular Diagnosis
8%
Skin Defect
8%
Cell Line
8%
Recurrent Disease
8%
Edentulism
8%
Antivirus Agent
8%
Double Stranded RNA
8%