Keyphrases
Down Syndrome
76%
Pathogenic Variants
75%
Infantile Epileptic Encephalopathy
50%
SNAP-25
50%
Registry Study
50%
Intellectual Disability
45%
Exome Sequencing
42%
Autism
38%
Neurodevelopmental Disorders
35%
National Society of Genetic Counselors
30%
Seizure
30%
Related Disorders
29%
Neurodevelopmental Phenotypes
27%
Specialty Clinic
26%
Whole Exome Sequencing
26%
Jaffe-Campanacci Syndrome
25%
Glypican-4
25%
Dysregulated Behavior
25%
Primary Coenzyme Q10 Deficiency
25%
Genetic Counseling
25%
Cell Anomalies
25%
POLR1B
25%
Noninvasive Prenatal Testing
25%
SMAD4 Gene
25%
Expanded Carrier Screening
25%
Treacher Collins Syndrome
25%
Spelling Mistakes
25%
Kabuki Syndrome
25%
Phenotypic Expansion
25%
Methyl-binding Proteins
25%
Factor V Deficiency
25%
Prenatal Genetic Counseling
25%
Celiac Disease
25%
Neurofibromatosis Type 1 (NF-1)
25%
Neurofibromatosis Type I
25%
Multicenter Registry
25%
Production Process
25%
Disease Entity
25%
Thoracic Aortic Disease
25%
Attention Deficit Hyperactivity Disorder
25%
Patient Database
25%
HNRNPH2
25%
X Chromosome
25%
Syndrome Type
25%
Phenotypic Characterization
25%
HnRNP
25%
Autism Spectrum Disorder
25%
Hypomorphic mutation
25%
KMT2D
25%
Clinical Analysis
25%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Exome Sequencing
96%
Down Syndrome
76%
SNAP25
50%
Genetic Counseling
50%
Intellectual Disability
45%
Missense
41%
Proband
38%
Medical Genetics
31%
Glypican 4
25%
Autosomal Recessive Inheritance
25%
Treacher Collins Syndrome
25%
COQ7
25%
Active Site
25%
Coenzyme Q10 Deficiency
25%
Transcription Factors
25%
Mitochondrial Disorder
25%
Methyl-CpG-Binding Domain
25%
Prenatal Genetics
25%
Body Height
25%
Exome
25%
X Chromosome
25%
Neural Crest
25%
Fibroblast
25%
Bioenergetics
25%
Allele
19%
Autosomal Dominant Inheritance
16%
Gene Expression
16%
Amino Acids
15%
N-Terminus
12%
Methyltransferase
12%
Coiled Coil
12%
Hemispheric Dominance
12%
Nuclear Localization Sequence
12%
Tissue Differentiation
12%
Zebra Fish
12%
Precursor mRNA
12%
Ribonucleoprotein
12%
Comorbidity
12%
Messenger RNA
12%
Lysine
12%
Screening Test
9%
Regulatory Region
8%
Patient Satisfaction
8%
Shared Decision Making
8%
Genetic Disorder
8%
Cell Migration
8%
P53
8%
Programmed Cell Death
8%
Offspring
8%
Medicine and Dentistry
Diseases
80%
Genetic Counseling
50%
Medicine
42%
Informed Consent
33%
Autosomal Recessive Inheritance
33%
Aneurysm
28%
Synaptosomal Associated Protein 25
25%
Thyroid Disease
25%
Juvenile Polyposis Syndrome
25%
Down Syndrome
25%
Kabuki Syndrome
25%
Disorders of Mitochondrial Functions
25%
Patient with Down Syndrome
25%
Brain Disease
25%
Exome Sequencing
25%
Cell Damage
25%
Neurofibromatosis Type I
25%
Complex Congenital Heart Disease
25%
Cardiovascular System
25%
Aortic Disease
25%
Neonate
25%
Long Chain Acyl Coenzyme A Dehydrogenase
25%
Sudden Cardiac Death
25%
Hereditary Hemorrhagic Telangiectasia
22%
Desmoplastic Fibroma
21%
Thyroid Gland
20%
Screening Test
17%
Heart Arrest
16%
Aortic Root
15%
Aortic Dissection
15%
High Risk Pregnancy
12%
In Vitro
12%
Failure to Thrive
12%
Hyperlactatemia
12%
Maternal Serum
12%
Hyperammonemia
12%
Trisomy
12%
Thoracic Aortic Aneurysm
12%
Congenital Malformation
12%
Fibroblast
12%
Diagnostic Test
12%
Disease
12%
Short Stature
11%
Dysmorphic Feature
11%
Somatics
10%
Germ Cell
10%
Marfan Syndrome
9%
Genetic Disorder
8%
Shared Decision Making
8%
Incidental Finding
8%