Keyphrases
Developmental Delay
74%
Neurodevelopmental Disorders
72%
ATP-binding Cassette Transporter A1 (ABCA1)
67%
Biallelic
63%
Intellectual Disability
63%
Pathogenic Variants
59%
Neonatal Respiratory Distress Syndrome
58%
Neonatal-Perinatal Medicine
51%
Missense Variants
50%
Undiagnosed Diseases Network
50%
Alveolar Capillary Dysplasia
50%
Genome Sequencing
48%
Respiratory Distress Syndrome
48%
Childhood Interstitial Lung Disease
43%
Biallelic Variants
39%
SFTPC
38%
Genetic Disease
37%
Epilepsy
36%
Functional Characterization
34%
Exome Sequencing
34%
Proband
32%
Autosomal Dominant
31%
ABCA3
31%
Surfactant Dysfunction
31%
Gain-of-function mutation
30%
Phenotypic Spectrum
29%
FOXF1
27%
Seizure
26%
Neurodevelopmental Phenotypes
25%
Neurological Disorders
24%
Hypotonia
23%
Cerebellar Hypoplasia
22%
Population-based
22%
Phenotypic Expansion
21%
Neurodevelopmental Syndrome
21%
Truncating Variant
20%
Gene Variants
20%
Alveolar Type II Cells
20%
AEC2
20%
Term Infants
20%
SP-C
19%
Dominant Negative
19%
Diagnostic Odyssey
19%
Dysmorphism
18%
Haploinsufficiency
18%
Drosophilidae
18%
Pediatric
18%
Associated Genes
18%
Pathogenicity
17%
Fellowship Program
17%
Biochemistry, Genetics and Molecular Biology
Missense
89%
Genetics
86%
Intellectual Disability
85%
Genome Sequencing
59%
Proband
57%
Surfactant
55%
Dysplasia
54%
Fibroblast
50%
Allele
49%
Exome Sequencing
46%
ATP-binding Cassette Transporter
38%
ABC Transporter
38%
ABCA3
37%
Adenosine Triphosphate
36%
Autosomal Dominant Inheritance
36%
Exon
33%
FOXF1
26%
Surfactant Protein C
25%
Exome Sequencing
23%
Amino Acids
22%
Haploinsufficiency
22%
Genetic Disorder
21%
Candidate Gene
21%
Diptera
20%
Signal Transduction
19%
Computer Model
18%
Next Generation Sequencing
18%
RNA
17%
Surfactant Protein B
16%
Haplotype
16%
ATPase
16%
Mouse
15%
Cognition
14%
DNA-binding Protein
14%
Chromodomain
14%
Ether Lipid
14%
Helicase
14%
Kinase
14%
Phosphotransferase
14%
Stem Cell
14%
Mosaicism
14%
Dynamics
14%
Enhancer Region
13%
Cilium
13%
Phenotype
13%
Body Height
12%
Gene Mutation
12%
Induced Pluripotent Stem Cell
12%
Serine
12%
Infancy
11%
Medicine and Dentistry
Disease
100%
Medicine
46%
Perinatal Care
43%
Surfactant
42%
Diagnosis
37%
Genetic Disorder
34%
Respiratory Distress Syndrome
30%
Neonatal Respiratory Distress Syndrome
27%
ABC Transporter
24%
Fibroblast
23%
Respiratory Failure
22%
Interstitial Lung Disease
22%
Lung Transplantation
21%
Developmental Delay
20%
Pediatrics
18%
Silo-Filler's Disease
18%
Prematurity
17%
Allele
16%
Genome Sequencing
15%
Infancy
15%
Pathogenicity
15%
Rare Disease
15%
Rare Lung Disease
14%
Alveolar Capillary Dysplasia
14%
Exome Sequencing
14%
Autosomal Dominant Inheritance
13%
Pulmonary Vein
13%
Adenosine Triphosphate
13%
Pulmonary Surfactant
11%
Gene Mutation
11%
Perinatology
10%
Neurologic Disease
10%
Neonatology
10%
Hypotonia
10%
Orphan Disorder
9%
Type 2 Epithelial Cell
9%
Haploinsufficiency
9%
Magnetic Resonance Imaging
9%
Epileptic Seizure
9%
Personalized Medicine
9%
Next Generation Sequencing
9%
Alveolar Type II Cells
9%
Whole Genome Sequencing
9%
Contracture
9%
Gene Therapy
8%
Cell Hyperplasia
8%
Cardiomyopathy
8%
Neonate
8%
Newborn Period
8%
Clinician
7%
