Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Disorder
8%
Candidate Gene
28%
Cell Adhesion
17%
Cell Migration
17%
Cell Polarity
17%
Copper
11%
Cytoskeleton
17%
Exome
17%
Exome Sequencing
17%
Exon
17%
Gene
100%
Gene Discovery
8%
Gene Linkage
22%
Genetic Heterogeneity
8%
Genetics
34%
GTPase-activating Protein
17%
Haplotype
34%
Ligand Binding Domain
17%
Linkage Analysis
17%
Membrane
17%
Missense
17%
Motor Neuron
28%
Notch
17%
Notch Signaling Pathway
17%
Proband
34%
Protein
51%
Reduction (Chemistry)
34%
Rho Family of GTPases
17%
RNA
17%
RNA Splicing
17%
Sequencing
28%
TARDBP
17%
Transcription
17%
Medicine and Dentistry
Cataract
6%
Centronuclear Myopathy
13%
Clinical Feature
13%
Corpus Callosum Agenesis
13%
DeJerine-Sottas Disease
6%
Differential Diagnosis
13%
Disease
6%
Disorders of Mitochondrial Functions
6%
Eye
6%
Gene
6%
Hypopigmentation
6%
Immune Deficiency
6%
Infant
20%
Muscle Biopsy
34%
Myocardial Disease
6%
Respiratory Chain
6%
Sensorineural Hearing Loss
34%
Syndrome
34%
Trichrome
6%
Neuroscience
Frontotemporal Dementia
39%
Neurodegenerative Disorder
8%
