Keyphrases
Molecular Characterization
100%
Clinical Features
57%
Screening Diagnosis
50%
Primary Coenzyme Q10 Deficiency
50%
New Genotype
50%
Congenital Disorders of Glycosylation
50%
Factor V Deficiency
50%
Triheptanoin
50%
Pyruvate Carboxylase Deficiency
50%
Psychosine
50%
Krabbe Disease
50%
ANKS6
50%
Human Genetics
50%
Disease Entity
50%
Biochemical Characterization
50%
Clinical Characterization
50%
Compound Heterozygous mutation
50%
Phenotypic Characterization
50%
Hypomorphic mutation
50%
Genetic Disease
50%
Mitochondrial Disease
50%
COQ7
50%
Pathological Features
50%
Functional Characterization
50%
Elastin
50%
Pathogenic Variants
42%
Neonatal Onset
32%
Failure to Thrive
30%
Cholestasis
30%
PC Deficiency
27%
Galactocerebrosidase
27%
GPI-anchored Protein (GPI-AP)
25%
Mabry Syndrome
25%
V-function
25%
Historical Wrongs
25%
Genetic Health
25%
Life-threatening
25%
Between-person
25%
Professional Practice
25%
Disability
25%
Active Sites
25%
Signal Functions
25%
Clinical Resolution
25%
Abnormal Region
25%
Professional Training
25%
Proband
25%
Sex-gender
25%
Genetic Research
25%
Bioenergetic Metabolism
25%
Structural Modeling
25%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
75%
Genotyping
55%
Proband
50%
Congenital Disorder of Glycosylation
50%
Coenzyme Q10 Deficiency
50%
COQ7
50%
Triheptanoin
50%
Mitochondrial Disorder
50%
Genetic Disorder
50%
Genetics
50%
Active Site
50%
Human Genetics
50%
Cilium
50%
Krabbe Disease
50%
Pyruvate Carboxylase
50%
Fibroblast
50%
Elastin
50%
Bioenergetics
50%
Anabolism
32%
Galactosylceramidase
27%
Sterile Alpha Motif
25%
INVS
25%
NPHP3
25%
Dysplasia
25%
Ankyrin Repeat
25%
Next Generation Sequencing
25%
Kidney Development
25%
Cardiac Muscle Cell
25%
Ankyrin
25%
Newborn Screening
16%
Propionic Acidemia
16%
Allele
14%
Pedigree
12%
Glycosylphosphatidylinositol
12%
Alkaline Phosphatase Blood Level
12%
Enzyme
12%
Mental Development
12%
Polysaccharide
12%
Phosphatidylinositol
12%
Elastic Fiber
10%
Autosomal Dominant Inheritance
10%
Protein Function
10%
Williams Syndrome
10%
Oxygenase
7%
Coenzyme Q10
7%
Inborn Error of Metabolism
7%
Genotype Phenotype Correlation
7%
Wild Type
7%
Gluconeogenesis
5%
Autosomal Recessive Inheritance
5%
Medicine and Dentistry
Diseases
73%
Disorders of Mitochondrial Functions
50%
Human Genetics
50%
Congenital Disorder of Glycosylation
50%
Cholestasis
50%
Genetic Disorder
50%
Neonatal Infant
50%
Globoid Cell Leukodystrophy
50%
Psychosine
50%
Elastin
50%
Exome Sequencing
41%
Cilium
33%
Necrosis
33%
Congestive Heart Failure
33%
Galactosylceramidase
27%
Failure to Thrive
25%
Hyperlactatemia
25%
In Vitro
25%
Pedigree
25%
Health Care
25%
Hyperammonemia
25%
Genetic Research
25%
Fibroblast
25%
Disease
25%
Kidney Dysplasia
16%
Sterile Alpha Motif
16%
Severe Renal Impairment
16%
Ankyrin
16%
Liver Histology
16%
Kidney Development
16%
Hypothyroidism
16%
Renal Failure
16%
Cardiac Muscle Cell
16%
Next Generation Sequencing
16%
Newborn Screening
16%
Polycystic Kidney Disease
16%
Ciliopathy
16%
Myocardial Disease
16%
Urogenital Tract Malformation
12%
Developmental Delay
12%
Alkaline Phosphatase
12%
Osteopenia
12%
Glycan
12%
Pathophysiology
12%
Diarrhea
12%
Phosphatidylinositol
12%
Anorectal Anomalies
12%
Limb Malformation
12%
Mental Development
12%
Metabolic Disorder
12%
