Keyphrases
Novel Variants
100%
Whole Exome Sequencing
100%
Dried Blood Spots
100%
Sedaghatian-type Spondylometaphyseal Dysplasia
100%
Glutathione Peroxidase 4 (GPX4)
100%
Segregation Analysis
33%
Critical Samples
33%
Israeli
16%
Cell Death
16%
Truncation
16%
Autosomal Recessive
16%
Genetic Diagnosis
16%
Sequence Analysis
16%
Neonatal Death
16%
Newborn Screening
16%
Ventricular Arrhythmia
16%
Cell Death Pathways
16%
Dying Patients
16%
Heterozygote
16%
Rare Diseases
16%
Genetic Causes
16%
Hypotonia
16%
Membrane Damage
16%
Brain Anomalies
16%
Skeletal Dysplasia
16%
Membrane Cell
16%
Screening Center
16%
Sanger Sequencing
16%
Ferroptosis
16%
Hydroperoxidases
16%
Lipid Peroxides
16%
Oxidized Lipids
16%
Cardiorespiratory Diseases
16%
DNA Samples
16%
Autosomal Recessive Inheritance
16%
Non-apoptotic Functions
16%
Medicine and Dentistry
Dysplasia
100%
Dried Blood Spot
100%
Phospholipid Hydroperoxide Glutathione Peroxidase
100%
Exome Sequencing
100%
Segregation Analysis
33%
Cell Death
33%
Hypotonia
16%
Prematurity
16%
Autosomal Recessive Inheritance
16%
Newborn Death
16%
Newborn Screening
16%
Membrane Damage
16%
Ferroptosis
16%
Bone Dysplasia
16%
Dying
16%
Lipid Peroxide
16%
Rare Disease
16%
Cardiopulmonary Insufficiency
16%
Brain Malformation
16%
Sanger Sequencing
16%
Autosomal Recessive Disorder
16%
Arrhythmia
16%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
100%
Dysplasia
100%
Glutathione Peroxidase 4
100%
Genetics
33%
Cell Death
33%
Lipid
16%
Autosomal Recessive Disorder
16%
Lipid Peroxide
16%
Newborn Screening
16%
Membrane Damage
16%
Autosomal Recessive Inheritance
16%
Ferroptosis
16%
Dying
16%
Sanger Sequencing
16%
Cardiac Dysrhythmia
16%