Keyphrases
Duchenne muscular Dystrophy
100%
Turner Syndrome
100%
Mosaicism
100%
46,XY
100%
Translational Approach
100%
45,X
100%
Italian Case
100%
Genital Ambiguity
100%
Ambiguous Genitalia
50%
Neuromuscular Disease
16%
Neonate
16%
Developmental Delay
16%
Muscle Weakness
16%
Climbing Stairs
16%
Short Stature
16%
De-novo mutations
16%
Lower Limb muscles
16%
X-linked Disorder
16%
Ultrasound
16%
Long Arm
16%
Inheritance Pattern
16%
Sterility
16%
Y Chromosome
16%
Serum Creatine Kinase
16%
Upper Normal Limit
16%
46,XX
16%
Dysmorphic Features
16%
Typical Symptoms
16%
Genitourinary System
16%
Motor Delay
16%
Chromosomal Karyotype
16%
Mosaic Turner Syndrome
16%
Upper Limb muscle
16%
XY Mosaicism
16%
Isochromosome
16%
Gonadal Dysgenesis
16%
Structural Defects
16%
Ring Chromosome
16%
Difficulty Walking
16%
Medicine and Dentistry
Turner Syndrome
100%
Duchenne Muscular Dystrophy
100%
45,X/46,XY Mosaicism
100%
Ambiguous Genitalia
100%
Mosaicism
28%
Arm
14%
Muscle Weakness
14%
Dysmorphic Feature
14%
Developmental Delay
14%
Stair Climbing
14%
Karyotype
14%
Creatine Kinase
14%
Neuromuscular Disease
14%
Neonate
14%
Physical Examination
14%
Short Stature
14%
Genitourinary System
14%
Y Chromosome
14%
Walking Difficulty
14%
Karyotype 45,X
14%
Jumping
14%
Ring Chromosome
14%
Gonadal Dysgenesis
14%
Isochromosome
14%
Biochemistry, Genetics and Molecular Biology
Mosaicism
100%
Turner Syndrome
100%
Body Height
14%
Karyotype
14%
Jumping
14%
Y Chromosome
14%
Isochromosome
14%
Creatine Kinase Blood Level
14%
Ring Chromosome
14%
Karyotype 45,X
14%
Stair Climbing
14%
Neuroscience
Muscular Dystrophy
100%
Mosaicism
100%
Neuromuscular Disorder
16%
Creatine Kinase
16%
Y Chromosome
16%
Karyotype 45,X
16%
Karyotype
16%
Isochromosome
16%
Physical Examination
16%
Agricultural and Biological Sciences
Genitalia
100%
Neonate
33%
Y Chromosome
33%
Jumping
33%
Creatine Kinase
33%