Keyphrases
Syndrome Type
100%
Spatial Positioning
100%
Loeys-Dietz Syndrome
100%
GABRB3 Gene
100%
Retinoblastoma
100%
RB1 Gene
100%
Severe Intellectual Disability
100%
WDR45B
100%
Epileptic Encephalopathy
100%
Beta-propeller Protein-associated Neurodegeneration
100%
Three-dimensional Fluorescence
100%
UBE3A Gene
100%
Pallister-Hall Syndrome
100%
Genital Abnormalities
100%
Left Ventricular Noncompaction
100%
Bilateral Perisylvian Polymicrogyria
100%
Periventricular Nodular Heterotopia
100%
BCKDHA
100%
Paracentric Inversion
100%
Accessible Region
100%
Arthrogryposis
100%
Arterial Rupture
100%
Peripartum
100%
Piezo2
100%
Arterial Aneurysm
100%
Cold-induced Sweating Syndrome
100%
Crisponi Syndrome
100%
Pediatric Treatment
100%
Ambiguous Genitalia
100%
Neonatal Treatment
100%
Deletion Syndrome
100%
Fetal Akinesia
100%
Chromosome 1p36 Deletion Syndrome
100%
Preimplantation Genetic Testing for Monogenic Disorders (PGT-M)
100%
Clinical Workup
100%
Imprinted Loci
75%
Pelizaeus-Merzbacher Disease
75%
Genomic Functions
66%
TGFBR2 Gene
50%
Talipes Equinovarus
50%
Aortic Aneurysm
50%
Intracardiac Repair
50%
Hydrometrocolpos
50%
Micropenis
50%
Vaginal Atresia
50%
Maternal Genome
50%
Telomeric Associations
50%
Methyl-CpG-binding Protein 2 (MeCP2)
50%
MECP2 Duplication Syndrome
50%
Monosomy
40%
Biochemistry, Genetics and Molecular Biology
Epigenetics
100%
Dehydrogenase
100%
CTCF
100%
Excitation-Emission Matrix Fluorescence Spectroscopy
100%
GABRB3
100%
Whole Genome Sequencing
100%
UBE3A
100%
Monosomy
100%
Amino Acid Metabolism
100%
Beta-Propeller
100%
WDR45
100%
Prevalence
100%
Computer Assisted Tomography
100%
Microarrays
100%
Oxidoreductase
100%
Preimplantation
100%
Fluorescence in Situ Hybridization
100%
Intron
100%
Chromosomal Rearrangement
100%
Proprioception
100%
Fetus Movement
100%
Transposase
100%
Missense
100%
Polymerase Chain Reaction
100%
Autosomal Recessive Inheritance
100%
MECP2
80%
Pelizaeus-Merzbacher Disease
60%
Retrospective Study
50%
Amnion Cell
50%
SNP Array
50%
Muscle Contraction
40%
Cytogenetics
33%
Epigenomics
33%
G Banding
33%
Germline
33%
Chromothripsis
33%
Germ Cell
33%
Spermatogenesis
33%
DNA Methylation
27%
Haploinsufficiency
27%
Genome Size
25%
Splicing Defect
25%
Pseudoautosomal Region
25%
Chromosome Xq
20%
Genetics
18%
X-Inactivation
18%
Binding Site
18%
Lysyl Hydroxylase
14%
Intellectual Disability
9%
Microdeletion Syndrome
9%
Medicine and Dentistry
Monosomy
100%
Microgyria
100%
Noncompaction Cardiomyopathy
100%
Periventricular Heterotopia
100%
Pallister Hall Syndrome
100%
Sweating
100%
Arthrogryposis
100%
Artery Rupture
100%
Trisomy 13
100%
Loeys-Dietz Syndrome
100%
Aortic Aneurysm
50%
Intractable Epilepsy
50%
Hydrometrocolpos
50%
Vagina Atresia
50%
Micropenis
50%
Foot Malformation
50%
Hypertrichosis
33%
Areflexia
33%
Retrognathism
33%
Capillary Resistance
33%
Hematopneumothorax
33%
Fetal Movement
33%
Procollagen Lysine 2 Oxoglutarate 5 Dioxygenase
33%
Refractive Error
33%
Phalanx
33%
Sclera
33%
Strabismus
33%
Mercury Sulfide
33%
Iliac Artery Aneurysm
28%
Inguinal Hernia
25%
Hypospadias
25%
Cryptorchism
25%
Joint Laxity
25%
Artery Reconstruction
25%
Camptodactyly
25%
Heart Murmur
25%
Short Nose
20%
Anteverted Nostril
20%
Autonomic Nerve
20%
Prognathism
20%
Hyperthermia
20%
G Banding
16%
Ventriculomegaly
16%
Eosinophilic Enteritis
14%
Vascular Fragility
14%
Hemorrhagic Shock
14%
Pain
14%
Aortopulmonary Window
14%
Laryngomalacia
14%
Descending Aorta
14%