Keyphrases
Neurology
100%
Carbonic Anhydrase
100%
Deficiency Diseases
100%
Primary Familial Brain Calcification
100%
Autosomal Recessive
40%
Intellectual Disability
40%
Osteopetrosis
40%
Optic Nerve Involvement
40%
Renal Tubular Acidosis
40%
Clinically Significant
20%
Retina
20%
Ocular Motility
20%
Early Treatment
20%
Basal Ganglia
20%
White Matter
20%
Neuroimaging
20%
Posterior Region
20%
Brainstem
20%
Genetic Influences
20%
One-child
20%
Neurological Examination
20%
Splicing mutation
20%
Neuro-ophthalmology
20%
Frontal Region
20%
Craniofacial
20%
Disease Course
20%
Hearing Impairment
20%
Bicarbonate
20%
Strabismus
20%
Developmental Delay
20%
Final Examination
20%
Internal Auditory Canal
20%
Congenital Nystagmus
20%
Forehead
20%
Short Stature
20%
Consanguineous Family
20%
Cranial Vault
20%
Deep Tendon Reflex
20%
Optic Canal
20%
Accommodative
20%
Systemic Acidosis
20%
Cognitive Disturbances
20%
Spastic Quadriparesis
20%
Epigenetic Influences
20%
Medicine and Dentistry
Neurology
100%
Brain Calcification
100%
Carbonic Anhydrase
100%
Disease
60%
Optic Nerve
40%
Albers Schoenberg Disease
40%
Renal Tubular Acidosis
40%
Eye Movement
20%
Intron
20%
Brainstem
20%
Thalamus
20%
Neurologic Examination
20%
Hearing Impairment
20%
Developmental Delay
20%
Acidosis
20%
Basal Ganglia
20%
Autosomal Recessive Disorder
20%
Strabismus
20%
Sodium Bicarbonate
20%
Autosomal Recessive Inheritance
20%
Internal Auditory Canal
20%
Tetraplegia
20%
Congenital Nystagmus
20%
Short Stature
20%
Tendon Reflex
20%
Pharmacology, Toxicology and Pharmaceutical Science
Syndrome
100%
Carbonate Dehydratase
100%
Brain Calcification
100%
Disease
60%
Albers Schoenberg Disease
40%
Kidney Tubule Acidosis
40%
Dicarbonate
20%
Hearing Impairment
20%
Developmental Delay
20%
Strabismus
20%
Autosomal Recessive Disorder
20%
Short Stature
20%
Congenital Nystagmus
20%
Quadriplegia
20%
Neuroscience
Carbonic Anhydrase
100%
Optic Nerve
50%
Thalamus
25%
Basal Ganglia
25%
Brainstem
25%
Intron
25%
Autosomal Recessive Disorder
25%
Bicarbonate
25%
Strabismus
25%
Tendon Reflex
25%
Quadriparesis
25%
Optic Canal
25%
Biochemistry, Genetics and Molecular Biology
Carbonic Anhydrase
100%
Autosomal Recessive Disorder
25%
Genetics
25%
Epigenetics
25%
Autosomal Recessive Inheritance
25%
Intron
25%
Splice Site Mutation
25%
Body Height
25%
Eye Movement
25%
Tendon Reflex
25%