Keyphrases
Congenital Hypothyroidism
100%
Newborn Screening
100%
Pathogenic Variants
70%
Clinical Characteristics
60%
Related Disorders
58%
Non-accidental Trauma
50%
AKT1 mutation
50%
Proteus Syndrome
50%
PPP2CA
50%
RFC1
50%
Blaschkoid
50%
Gene Panel Sequencing
50%
Vitamin D Status
50%
Developmental Epilepsy
50%
Gaucher Disease
50%
United States
50%
Arteriovenous Malformation
50%
Parent Questionnaire
50%
Amniocytes
50%
Gastroparesis
50%
Developmental Disorders
50%
Prenatal Diagnosis
50%
Panel Testing
50%
MED12
50%
Vascular Malformation
50%
Direct-to-consumer Genetic Testing
50%
25(OH) Vitamin D
50%
Care Pathway
50%
Long-read Sequencing
50%
Subdural Hematoma
50%
Parental Perspectives
50%
Fetal Alcohol Spectrum Disorder
50%
Complex Vascular Malformation
50%
Gonadal Dysgenesis
50%
Gammopathy
50%
Whole Genome
50%
Mandibulofacial Dysostosis
50%
Autism
50%
Novel Mechanism
50%
Molecular Characteristics
50%
Gastric Dysmotility
50%
Low Serum
50%
Hypopigmentation
50%
Brazil
50%
Syndrome Diagnosis
50%
Hypothyroidism
40%
Likely Pathogenic Variant
37%
Intellectual Disability
30%
Overgrowth Disorder
30%
AKT1
30%
Medicine and Dentistry
Newborn Screening
100%
Congenital Hypothyroidism
100%
Disease
90%
Diseases
74%
Microcephaly
56%
Mosaicism
55%
Hypothyroidism
53%
XY Gonadal Dysgenesis
50%
Hypopigmentation
50%
Mandibulofacial Dysostosis
50%
Subdural Hematoma
50%
Gaucher Disease Type 1
50%
Next Generation Sequencing
50%
Injury
50%
Gastric Dysmotility
50%
Fetal Alcohol Syndrome
50%
Arteriovenous Malformation
50%
Amniocyte
50%
Genetic Screening
50%
Prenatal Diagnosis
50%
Vitamin D
50%
Stomach Paresis
50%
Vascular Anomaly
50%
Gammopathy
50%
Proteus Syndrome
50%
Adolescence
50%
Somatics
37%
Thyrotropin
26%
Thyroxine
26%
Stomach Motility
25%
Isoprenaline
25%
Dysmorphic Feature
25%
Sanger Sequencing
20%
Exome Sequencing
20%
Brain Malformation
18%
Cerebral Hemorrhage
16%
Dysgerminoma
16%
Gonadal Dysgenesis
16%
Interdisciplinary Care
16%
Gonadectomy
16%
Disorders of Sex Development
16%
Diagnosis
16%
Pediatrician
16%
Multiple Myeloma
14%
Low Birth Weight
13%
Jaundice
13%
Levothyroxine
13%
Thyroid Function
13%
Thyroid Gland
13%
Adverse Outcome
13%
