Keyphrases
Developmental Delay
67%
Neurodevelopmental Disorders
66%
ATP-binding Cassette Transporter A1 (ABCA1)
61%
Biallelic
58%
Intellectual Disability
58%
Pathogenic Variants
55%
Neonatal Respiratory Distress Syndrome
53%
Missense Variants
53%
Undiagnosed Diseases Network
52%
Respiratory Distress Syndrome
50%
Neonatal-Perinatal Medicine
46%
Childhood Interstitial Lung Disease
46%
Alveolar Capillary Dysplasia
45%
Genome Sequencing
44%
SFTPC
36%
Biallelic Variants
35%
Genetic Disease
34%
Exome Sequencing
33%
Epilepsy
33%
Functional Characterization
31%
Proband
30%
Autosomal Dominant
28%
ABCA3
28%
Surfactant Dysfunction
28%
Gain-of-function mutation
27%
Phenotypic Spectrum
26%
FOXF1
24%
Seizure
23%
Neurodevelopmental Phenotypes
23%
Neurological Disorders
22%
Hypotonia
21%
Cerebellar Hypoplasia
21%
Population-based
20%
Neonate
20%
Phenotypic Expansion
20%
Neurodevelopmental Syndrome
19%
Truncating Variant
19%
Gene Variants
19%
Dominant Negative
19%
Alveolar Type II Cells
18%
AEC2
18%
Term Infants
18%
SP-C
17%
Diagnostic Odyssey
17%
Dysmorphism
17%
Genetic Testing
17%
Fibroblasts
16%
Haploinsufficiency
16%
Drosophilidae
16%
Pediatric
16%
Biochemistry, Genetics and Molecular Biology
Missense
100%
Intellectual Disability
84%
Genetics
80%
Proband
63%
Fibroblast
56%
Genome Sequencing
53%
Surfactant
51%
Dysplasia
49%
Allele
48%
Exome Sequencing
48%
Exon
35%
ATP-binding Cassette Transporter
35%
ABC Transporter
35%
ABCA3
34%
Genomics
34%
Adenosine Triphosphate
33%
Autosomal Dominant Inheritance
33%
Amino Acids
26%
FOXF1
24%
Surfactant Protein C
23%
Next Generation Sequencing
22%
Haploinsufficiency
21%
Exome Sequencing
21%
Genetic Disorder
20%
Candidate Gene
20%
Mosaicism
20%
RNA Sequence
18%
RNA
17%
Surfactant Protein B
15%
Haplotype
15%
ATPase
14%
Rare Variant
14%
Germ Cell
13%
Germline
13%
Chromodomain
13%
Helicase
13%
Kinase
13%
Phosphotransferase
13%
Stem Cell
13%
DNA-binding Protein
13%
Ether Lipid
13%
Tamsulosin
13%
Cognition
13%
Body Height
13%
Dynamics
12%
Enhancer Region
12%
Cilium
12%
Transcription Factors
12%
Gene Mutation
11%
Whole Genome Sequencing
11%
Medicine and Dentistry
Diseases
77%
Diagnosis
44%
Surfactant
43%
Medicine
42%
Perinatal Care
40%
Disease
37%
Genetic Disorder
35%
Hyaline Membrane Disease
34%
Neonatal Respiratory Distress Syndrome
24%
Rare Disease
24%
Respiratory Failure
24%
Interstitial Lung Disease
23%
Genome Sequencing
22%
ABC Transporter
22%
Fibroblast
21%
Lung Transplantation
19%
Developmental Delay
18%
Exome Sequencing
17%
Prematurity
17%
Pediatrics
17%
Next Generation Sequencing
17%
Pathogenicity
16%
Allele
15%
Neonate
14%
Infancy
14%
Rare Lung Disease
13%
Alveolar Capillary Dysplasia
13%
Autosomal Dominant Inheritance
12%
Pulmonary Vein
12%
Adenosine Triphosphate
12%
Pulmonary Surfactant
10%
Orphan Disorder
10%
Gene Mutation
10%
Perinatology
10%
Neurologic Disease
10%
Neonatology
9%
Hypotonia
9%
Silo-Filler's Disease
9%
Type 2 Epithelial Cell
8%
Haploinsufficiency
8%
Magnetic Resonance Imaging
8%
Epileptic Seizure
8%
Comorbidity
8%
Personalized Medicine
8%
Alveolar Type II Cells
8%
Whole Genome Sequencing
8%
Contracture
8%
Gene Therapy
8%
Cell Hyperplasia
7%
Myocardial Disease
7%
