Keyphrases
Rokitansky Syndrome
50%
Familial Occurrence
50%
Otosclerosis
50%
CABP2
50%
TARP Syndrome
50%
Novel Candidate Genes
50%
Mitochondrial Encephalopathy
50%
Spinocerebellar Ataxia Type 14
50%
Sensorineural Hearing Impairment
50%
HARS2
50%
Perrault Syndrome
50%
Slowly Progressive
40%
Familial Cases
37%
Autosomal Recessive Cerebellar Ataxia
30%
Associated Anomalies
25%
Healthy Relatives
25%
Ultrasonographic Examination
25%
Robin Sequence
21%
Speech Audiometry
16%
Inferior Vestibular Nerve
16%
Vestibular Organ
16%
Lateral Semicircular Canal
16%
Posterior Semicircular Canal
16%
Anterior Semicircular Canal
16%
Mitochondrial DNA mutation
16%
Tone Audiometry
16%
RBM10
14%
Cardiac Malformation
12%
Unilateral Renal Agenesis
12%
Unknown Etiology
12%
Uncles
12%
Renal Agenesis
12%
Uterovaginal Agenesis
12%
Renal Cyst
12%
Skeletal Deformities
12%
Renal Malformations
12%
Sporadic Cases
12%
Menstrual Period
12%
Biallelic Variants
12%
Rapidly Progressive
12%
Premature Ovarian Insufficiency
12%
Older Brothers
12%
Monogenic Disease
10%
Agenesis
10%
46,XX
10%
Myoclonus-dystonia
10%
Cerebellar Ataxia
10%
Exonic Variant
10%
CS Domain
10%
Protective Variants
10%
Medicine and Dentistry
Rokitansky Syndrome
50%
Familial Disease
50%
Dizziness
50%
Lactic Acidosis
50%
Apoplexy
50%
Mitochondrial Encephalopathy
50%
Pierre Robin Syndrome
50%
Semicircular Canal
37%
Atrial Septal Defect
33%
Exon
33%
Sensorineural Hearing Loss
25%
Disability
25%
Head Impulse Test
25%
Scoliosis
16%
Family Planning
16%
Esotropia
16%
Carrier Testing
16%
Cardiac Shunt
16%
Persistent Left Superior Vena Cava
16%
Foot Malformation
16%
Diseases
16%
Cleft Palate
16%
Micrognathism
16%
Mosaicism
16%
Lethality
16%
Renal Agenesis
12%
Agenesis
12%
Solitary Kidney
12%
Congenital Disorder
12%
Maternally Inherited Diabetes and Deafness
12%
Speech Audiometry
12%
Vestibular Nerve
12%
Cochlear Nerve
12%
Point Mutation
12%
Speech Discrimination
12%
Family History
12%
Congenital Malformation
12%
Pure Tone Audiometry
12%
Symptom
12%
Audiometry
12%
Mitochondrial DNA
12%
Population Research
12%
Vestibular Test
12%
Renal Cyst
12%
Vestibular Evoked Myogenic Potential
12%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
100%
Missense
66%
Candidate Gene
50%
Exon
50%
Mental Retardation
50%
Loss of Heterozygosity
50%
DNA Extraction
50%
Allele
50%
Chromosome 11
50%
Aggrecan
50%
Consanguinity
50%
Autosomal Recessive Inheritance
50%
Pedigree
33%
Next Generation Sequencing
25%
Mosaicism
25%
Ovary Function
25%
Population
25%
Menstrual Cycle
25%
Genetics
16%
Autosomal Dominant Inheritance
16%
Penetrance
16%
