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Gene  19 times
Zygosity  18 times
Syndrome  13 times
Phenotype  11 times
DNA  11 times
Sanger sequencing  8 times
Protein  7 times
Mutation  7 times
Exon  6 times
Missense mutation  4 times
Genetic disorder  4 times
Genetic counseling  4 times
Exome sequencing  4 times
DNA sequencing  4 times
Chromosome  4 times
Ataxia  4 times
Whole genome sequencing  3 times
Transcription factor  3 times
Polymerase chain reaction  3 times
Obesity  3 times
Magnetic resonance imaging  3 times
Blood plasma  3 times
Autosome  3 times
Western blot  2 times
Sensorineural hearing loss  2 times
Point mutation  2 times
Plasmid  2 times
P53  2 times
Neuroimaging  2 times
Microcephaly  2 times
Messenger RNA  2 times
Hypoplasia  2 times
Hepatosplenomegaly  2 times
Hearing loss  2 times
Frameshift mutation  2 times
Fever  2 times
Epileptic seizure  2 times
Dystonia  2 times
Constipation  2 times
Carcinoma  2 times
Autism spectrum  2 times
Acid  2 times
White matter  1 time
White blood cell  1 time
Uveitis  1 time
Trisomy  1 time
Triglyceride  1 time
Transfection  1 time
Thyroidectomy  1 time
Thalassemia  1 time
TaqMan  1 time
T-cell receptor  1 time
T cell  1 time
Sweden  1 time
Stop codon  1 time
Standard deviation  1 time
Sequence alignment  1 time
SAP SE  1 time
Retinal pigment epithelium  1 time
Restriction fragment length polymorphism  1 time
Real-time polymerase chain reaction  1 time
Proteinuria  1 time
Prenatal diagnosis  1 time
Polymerase  1 time
Pheochromocytoma  1 time
Peripheral neuropathy  1 time
Penetrance  1 time
Parathyroid gland  1 time
Pancreas  1 time
Ovarian cancer  1 time
Optical coherence tomography  1 time
Optic neuropathy  1 time
Oppositional defiant disorder  1 time
Odds ratio  1 time
Obsessive–compulsive disorder  1 time
Nosebleed  1 time
Nitric oxide  1 time
Neurology  1 time
Neoplasm  1 time
Microarray  1 time
Michael E. Mann  1 time
Mexico  1 time
Medical ultrasound  1 time
Maxilla  1 time
Mass spectrometry  1 time
Male infertility  1 time
Lysosomal storage disease  1 time
Lung cancer  1 time
Luciferase  1 time
Lip  1 time
Library  1 time
Lectin  1 time
Larynx  1 time
Kinase  1 time
Kidney failure  1 time
Karyotype  1 time
Japan  1 time
Iran  1 time
Ionization  1 time
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Intrauterine growth restriction  1 time
Intraosseous infusion  1 time
International  1 time
Intelligence quotient  1 time
Immunofluorescence  1 time
Immunodeficiency  1 time
Illumina dye sequencing  1 time
Hyperparathyroidism  1 time
Hyperintensity  1 time
Human genome  1 time
Histology  1 time
Hepatocellular carcinoma  1 time
Han Chinese  1 time
Haematoxylin  1 time
HEK 293 cells  1 time
Growth hormone  1 time
Goitre  1 time
Glycosylation  1 time
Globin  1 time
Giant cell  1 time
Genotype  1 time
Genomics  1 time
Genome  1 time
Genetic code  1 time
Gene regulatory network  1 time
Gallbladder  1 time
GTPase  1 time
Flow cytometry  1 time
Fibrosis  1 time
Fibrinogen  1 time
Eosin  1 time
Enzyme  1 time
Endoglin  1 time
Endocrine system  1 time
Ductus arteriosus  1 time
Diarrhea  1 time
Diabetes mellitus type 2  1 time
Diabetes mellitus  1 time
Dermatitis  1 time
Dementia  1 time
Cytotoxic T cell  1 time
Cutaneous condition  1 time
Creatine  1 time
Copy-number variation  1 time
Contracture  1 time
Congo red  1 time
Classical music  1 time
Chromosomal translocation  1 time
Chain reaction  1 time
Cataract  1 time
Catalytic triad  1 time
Cardiomyopathy  1 time
Carbohydrate  1 time
Capillary electrophoresis  1 time
Body mass index  1 time
Biopsy  1 time
Bioinformatics  1 time
Biobank  1 time
Axon  1 time
Arthritis  1 time
Apoptosis  1 time
Antigen  1 time
Androgen receptor  1 time
Androgen  1 time
Allele  1 time
Adipocyte  1 time
Adenoma  1 time

Publications tagged with this subject: 35

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