Keyphrases
Attention Deficit Hyperactivity Disorder
25%
Autism
38%
Autism Spectrum Disorder
25%
Celiac Disease
25%
Cell Anomalies
25%
Developmental Delay
27%
Disease Entity
25%
Down Syndrome
76%
Dysregulated Behavior
25%
Exome Sequencing
42%
Expanded Carrier Screening
25%
Factor V Deficiency
25%
Genetic Counseling
25%
Glypican-4
25%
HnRNP
25%
HNRNPH2
25%
Hypomorphic mutation
25%
Infantile Epileptic Encephalopathy
50%
Intellectual Disability
45%
Jaffe-Campanacci Syndrome
25%
Kabuki Syndrome
25%
KMT2D
25%
Methyl-binding Proteins
25%
Multicenter Registry
25%
National Society of Genetic Counselors
30%
Neurodevelopmental Disorders
35%
Neurodevelopmental Phenotypes
27%
Neurofibromatosis Type 1 (NF-1)
25%
Neurofibromatosis Type I
25%
Noninvasive Prenatal Testing
25%
Pathogenic Variants
75%
Patient Database
25%
Phenotypic Characterization
25%
Phenotypic Expansion
25%
POLR1B
25%
Prenatal Genetic Counseling
25%
Primary Coenzyme Q10 Deficiency
25%
Production Process
25%
Registry Study
50%
Related Disorders
29%
Seizure
30%
SMAD4 Gene
25%
SNAP-25
50%
Specialty Clinic
26%
Spelling Mistakes
25%
Syndrome Type
25%
Thoracic Aortic Disease
25%
Treacher Collins Syndrome
25%
Whole Exome Sequencing
26%
X Chromosome
25%
Biochemistry, Genetics and Molecular Biology
Active Site
25%
Allele
19%
Amino Acids
15%
Autosomal Dominant Inheritance
16%
Autosomal Recessive Inheritance
25%
Bioenergetics
25%
Body Height
25%
Coenzyme Q10 Deficiency
25%
Coiled Coil
12%
Comorbidity
12%
COQ7
25%
Down Syndrome
76%
Dysplasia
9%
Exome
25%
Exome Sequencing
96%
FGF3
25%
Fibroblast
25%
Gene Deletion
25%
Gene Expression
16%
Genetic Counseling
50%
Genetics
100%
Glypican 4
25%
Haploinsufficiency
8%
Hemispheric Dominance
12%
Intellectual Disability
45%
Lysine
12%
Medical Genetics
31%
Messenger RNA
12%
Methyl-CpG-Binding Domain
25%
Methyltransferase
12%
Microdeletion Syndrome
25%
Missense
41%
Mitochondrial Disorder
25%
N-Terminus
12%
Neural Crest
25%
Nuclear Localization Sequence
12%
Patient Satisfaction
8%
Precursor mRNA
12%
Prenatal Genetics
25%
Proband
38%
Regulatory Region
8%
Ribonucleoprotein
12%
Screening Test
9%
Shared Decision Making
8%
SNAP25
50%
Tissue Differentiation
12%
Transcription Factors
25%
Treacher Collins Syndrome
25%
X Chromosome
25%
Zebra Fish
12%
Medicine and Dentistry
Aneurysm
28%
Aortic Disease
25%
Aortic Dissection
15%
Aortic Root
15%
Autosomal Recessive Inheritance
33%
Brain Disease
25%
Cardiovascular System
25%
Cell Damage
25%
Complex Congenital Heart Disease
25%
Congenital Malformation
12%
Desmoplastic Fibroma
21%
Diagnostic Test
12%
Disease
12%
Diseases
80%
Disorders of Mitochondrial Functions
25%
Down Syndrome
25%
Dysmorphic Feature
11%
Exome Sequencing
25%
Failure to Thrive
12%
Fibroblast
12%
Genetic Counseling
50%
Genetic Disorder
8%
Genetic Screening
8%
Germ Cell
10%
Heart Arrest
16%
Hereditary Hemorrhagic Telangiectasia
22%
High Risk Pregnancy
12%
Hyperammonemia
12%
Hyperlactatemia
12%
In Vitro
12%
Incidental Finding
8%
Informed Consent
33%
Juvenile Polyposis Syndrome
25%
Kabuki Syndrome
25%
Long Chain Acyl Coenzyme A Dehydrogenase
25%
Marfan Syndrome
9%
Maternal Serum
12%
Medicine
42%
Neonate
25%
Neurofibromatosis Type I
25%
Patient with Down Syndrome
25%
Screening Test
17%
Shared Decision Making
8%
Short Stature
11%
Somatics
10%
Sudden Cardiac Death
25%
Synaptosomal Associated Protein 25
25%
Thoracic Aortic Aneurysm
12%
Thyroid Disease
25%
Trisomy
12%
