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American Journal of Clinical Pathology, ISSN 0002-9173, 09/2013, Volume 140, Issue suppl_1, pp. A079 - A079
Journal Article
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 10/2019, Volume 54, Issue S1, pp. 261 - 262
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 0027-8424, 8/2011, Volume 108, Issue 31, pp. 12752 - 12757
The Drosophila porcupine gene is required for secretion of wingless and other Wnt proteins, and sporadic mutations in its unique human ortholog, PORCN, cause a... 
Hypoplasia | Phenotypes | Secretion | Cell lines | Stem cells | HeLa cells | Ligands | Skin | Embryos | Porcupines | Dermis | Epidermis | Hair follicle | Skeletal development | MULTIDISCIPLINARY SCIENCES | hair follicle | GOLTZ-SYNDROME | BETA-CATENIN | skeletal development | dermis | GASTRULATION | SIGNALING PATHWAY | WINGLESS | MICE | AXIS FORMATION | MUTATIONS | PROTEINS | epidermis | SONIC-HEDGEHOG | Ectoderm - embryology | Wnt1 Protein - genetics | Humans | Molecular Sequence Data | Male | Wnt1 Protein - metabolism | Wnt-5a Protein | Wnt Proteins - metabolism | Embryo, Mammalian - metabolism | TCF Transcription Factors - metabolism | Ectoderm - metabolism | Wnt Proteins - genetics | Gene Deletion | Female | Membrane Proteins - metabolism | Disease Models, Animal | Fibroblasts - metabolism | Acyltransferases | Amino Acid Sequence | Focal Dermal Hypoplasia - metabolism | Membrane Proteins - genetics | Mice, Inbred C57BL | Cells, Cultured | Focal Dermal Hypoplasia - genetics | beta Catenin - metabolism | Blotting, Western | beta Catenin - genetics | Mice, Knockout | Animals | Embryo, Mammalian - embryology | Embryo, Mammalian - cytology | Wnt3 Protein | Fibroblasts - cytology | Mice | TCF Transcription Factors - genetics | Body Patterning - genetics | Drosophila | Ligands (Biochemistry) | Physiological aspects | Genetic aspects | Focal dermal hypoplasia | Research | Wnt proteins | Health aspects | Biological Sciences
Journal Article
PloS one, ISSN 1932-6203, 2019, Volume 14, Issue 3, p. e0214250
Background Mitochondrial disease is a family of genetic disorders characterized by defects in the generation and regulation of energy. Epilepsy is a common... 
OXIDATIVE STRESS | HYPOPLASIA TYPE 6 | LIPID-PEROXIDATION | SPONDYLOMETAPHYSEAL DYSPLASIA | MULTIDISCIPLINARY SCIENCES | UNDIAGNOSED DISEASES | PONTOCEREBELLAR HYPOPLASIA | CEREBELLAR HYPOPLASIA | CELL-DEATH | SELENOPROTEIN BIOSYNTHESIS | RARS2 MUTATIONS | Mitochondrial Diseases - pathology | Cell Line | Mitochondrial Diseases - drug therapy | Ferroptosis - drug effects | Humans | Ubiquinone - analogs & derivatives | Mitochondrial Diseases - metabolism | Phospholipid Hydroperoxide Glutathione Peroxidase - antagonists & inhibitors | Epilepsy - metabolism | Arachidonate 15-Lipoxygenase - metabolism | Ubiquinone - pharmacology | Hydroxyeicosatetraenoic Acids - metabolism | Epilepsy - drug therapy | Phospholipid Hydroperoxide Glutathione Peroxidase - metabolism | Epilepsy - pathology | Carbolines - pharmacology | Peroxidase | Research | Children | Cell death | Epilepsy | Diseases | Oxidative stress | Disease | Disorders | Lipid peroxidation | Nervous system | Lipids | Cell viability | Iron | Biosynthesis | Genomes | Mitochondrial DNA | Antiepileptic agents | Mitochondria | Convulsions & seizures | Lymphocytes | Fibroblasts | Ataxia | Oxidation | Peroxides | Glutathione | Glutathione peroxidase | Hypoplasia | Enzymes | Medical treatment | Quinone | Pharmacology | Patients | Chemical compounds | Morbidity | Children & youth | Neurology | Hospitals | Depletion | Lymphocytes B | Internet | Mutation | Lipoxygenase | Apoptosis
Journal Article
American journal of physical anthropology, ISSN 0002-9483, 2015, Volume 157, Issue 4, pp. 556 - 570
Journal Article
Brain (London, England : 1878), ISSN 0006-8950, 2017, Volume 140, Issue 6, pp. 1595 - 1610
Journal Article
Journal Article