Biochemistry, Genetics and Molecular Biology
Exome Sequencing
100%
Missense
87%
Mental Retardation
77%
Genomics
58%
Haploinsufficiency
46%
Gene Discovery
37%
RNA Sequence
37%
Genetics
31%
RNA Sequencing
29%
Nervous System Development
27%
Genome Sequencing
27%
Exome Sequencing
27%
Exome
25%
Nerve Cell Differentiation
23%
Wild Type
23%
Knockout Mouse
23%
Genetic Prenatal Diagnosis
22%
Genetic Screening
21%
Candidate Gene
21%
Magnetic Resonance Imaging
20%
GRIN1
18%
GRIN2B
18%
X-Inactivation
18%
Cytogenetics
18%
Metabolomics
18%
Lissencephaly
18%
GABAergic Transmission
18%
Gene Deletion
18%
Alternative Splicing
18%
Channelopathy
18%
Foreign-Body Giant Cell
18%
Ribonucleoprotein
18%
Inborn Error of Metabolism
18%
Transient Receptor Potential Vanilloid
18%
Ankyrin
18%
Axon Guidance
18%
Lysine
18%
Neurotransmitter
18%
Gamma-Aminobutyric Acid
18%
Methyltransferase
18%
Lymphoblast
18%
Haplotype
18%
Genotyping
18%
Folate Metabolism
18%
Homocysteine
18%
Proband
16%
Enzyme
16%
Fibroblast
15%
Germ Cell
13%
Genetic Disorder
12%
Medicine and Dentistry
Azoospermia
30%
Diseases
28%
Andrology
24%
Molecular Diagnosis
24%
Exome Sequencing
18%
Brain Malformation
18%
Vanilloid Receptor 4
18%
Mucolipidosis
18%
Systematic Review
18%
Channelopathy
18%
Cell Damage
18%
I-Cell Disease
18%
Metaphase
18%
Polyneuropathy
18%
Skeleton Malformation
18%
Clinical Significance
18%
Folate Metabolism
18%
5 Methyltetrahydrofolic Acid
18%
Synthetase
18%
Gene Discovery
18%
Genetic Prenatal Diagnosis
18%
Cation Channel
18%
Jaw
18%
Limb Malformation
18%
Craniofacial Malformation
18%
Intellectual and Developmental Disabilities
18%
Congenital Malformation
13%
Testes
12%
Testis Biopsy
12%
Spermiogenesis
12%
Clinician
10%
Exome
10%
Autosomal Recessive Inheritance
10%
Mediator
9%
Counseling
6%
Oncology
6%
Germinoma
6%
Obstruction
6%
Testis Cancer
6%
Lysosomal Storage Disease
6%
Disease Predisposition
6%
Storage Disease
6%
Retrospective Study
6%
Y Chromosome
6%
Decision Making
6%
Follitropin
6%
Testicular Sperm Extraction
6%
Multiplex Polymerase Chain Reaction
6%
Therapy Development
6%
Diagnostic Error
6%
Neuroscience
Neurodevelopmental Disorder
37%
Pervasive Developmental Disorder
27%
Cortical Malformation
24%
5 Methyltetrahydrofolic Acid
18%
Synthetase
18%
Folate
18%
Lissencephaly
18%
GABAergic Transmission
18%
Alternative Splicing
18%
Metabolic Pathway
18%
Haploinsufficiency
18%
Folic Acid
18%
Neurotransmitter
18%
Cerebral Ventricle
18%
Gamma-Aminobutyric Acid
18%
Hypoplasia
18%
Exome Sequencing
18%
GRIN1
18%
GRIN2B
18%
Nervous System Disorder
18%
Autism
18%
Intellectual and Developmental Disabilities
18%
Cerebellar Vermis
12%
Microcephaly
11%
Cell pH
9%
Synaptic Transmission
9%
Brain Development
9%
Choroid Plexus
9%
Lateral Ventricle
9%
Hyperactivity
9%
Epithelial Cells
9%
Glutamic Acid
9%
Cell Membrane
9%
Corpus Callosum
9%
Habituation
9%
Hypotonia
9%
Staining Technique
9%
Interneuron
9%
Intellectual Disability
9%
Aspartic Acid
7%
Receptor
7%
Neuronal Migration
6%
Reelin
6%
Phosphotyrosine
6%
Ataxia
6%
Brain Abnormalities
6%
Magnetic Resonance Imaging of Brain
6%
Fibroblast
5%