نتائج البحث - "hydrocephalus"

1

Updated Imaging Findings in Congenital Zika Syndrome

المؤلفون: Vanessa van der Linden, Paul M. Parizel, Marcelo Moraes Valença, Natacha Calheiros de Lima Petribu, Carlos Alexandre Antunes de Brito, Maria de Fátima Viana Vasco Aragão

المصدر: Topics in Magnetic Resonance Imaging. 28:1-14

مصطلحات موضوعية: Diagnostic Imaging, Disease, Nervous System Malformations, Ultrasonography, Prenatal, 030218 nuclear medicine & medical imaging, Zika virus, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Polymicrogyria, medicine, Humans, Radiology, Nuclear Medicine and imaging, Pregnancy Complications, Infectious, biology, medicine.diagnostic_test, Zika Virus Infection, business.industry, Pachygyria, Infant, Newborn, Brain, Calcinosis, Infant, Magnetic resonance imaging, Syndrome, Zika Virus, Anatomy, biology.organism_classification, medicine.disease, Magnetic Resonance Imaging, Simplified gyral pattern, Microcephaly, Female, Tomography, X-Ray Computed, business, 030217 neurology & neurosurgery, Hydrocephalus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44bb5f0cbe7af5148a29ba8494484456Test
https://doi.org/10.1097/rmr.0000000000000193Test

2

TSEN54 missense variant in Standard Schnauzers with leukodystrophy

المؤلفون: Hannes Lohi, Tosso Leeb, Kaisa Kyöstilä, Isabelle Schmutz, Theresa Störk, Vidhya Jagannathan, Enrice Hünerfauth, Jasmin Nessler, Wolfgang Baumgärtner, Linda Anderegg, Andrea Tipold

المساهمون: Department of Medical and Clinical Genetics, Veterinary Biosciences, Helsinki One Health (HOH), Haartman Institute (-2014), Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics

المصدر: Störk, Theresa; Nessler, Jasmin; Anderegg, Linda; Hünerfauth, Enrice; Schmutz, Isabelle; Jagannathan, Vidya; Kyöstilä, Kaisa; Lohi, Hannes; Baumgärtner, Wolfgang; Tipold, Andrea; Leeb, Tosso (2019). TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS genetics, 15(10), e1008411. Public Library of Science 10.1371/journal.pgen.1008411 <http://dx.doi.org/10.1371/journal.pgen.1008411Test>
PLoS Genetics
PLoS Genetics, Vol 15, Iss 10, p e1008411 (2019)
PLOS Genetics

مصطلحات موضوعية: Central Nervous System, Pathology, Cancer Research, Heredity, Genetic Linkage, OLIVOPONTOCEREBELLAR HYPOPLASIA, QH426-470, 413 Veterinary science, Nervous System, Diagnostic Radiology, 0302 clinical medicine, DEMYELINATION, Centrum semiovale, Medicine and Health Sciences, Missense mutation, Genetics(clinical), Dog Diseases, Genetics (clinical), Myelin Sheath, Mammals, 0303 health sciences, Mammalian Genomics, 630 Agriculture, Pets and Companion Animals, ABNORMALITIES, Radiology and Imaging, Homozygote, 1184 Genetics, developmental biology, physiology, Eukaryota, Brain, Genomics, Disease gene identification, Magnetic Resonance Imaging, FATAL INFANTILE ENCEPHALOPATHY, 3. Good health, GENOME, Genetic Mapping, medicine.anatomical_structure, Phenotype, Vertebrates, 590 Animals (Zoology), medicine.symptom, Anatomy, Research Article, Veterinary Medicine, medicine.medical_specialty, Ataxia, Genotype, Imaging Techniques, Animal Types, Pontocerebellar hypoplasia, Mutation, Missense, Variant Genotypes, 610 Medicine & health, Biology, Research and Analysis Methods, AXONAL DAMAGE, White matter, 03 medical and health sciences, Dogs, Diagnostic Medicine, Endoribonucleases, medicine, Genetics, Animals, Humans, GLOBOID-CELL LEUKODYSTROPHY, Molecular Biology, Cerebrum, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, MUTATIONS, Leukodystrophy, CENTRAL-NERVOUS-SYSTEM, Organisms, Biology and Life Sciences, medicine.disease, GENE, Hydrocephalus, Leukodystrophy, Globoid Cell, Animal Genomics, Amniotes, 570 Life sciences, biology, Veterinary Science, Zoology, 030217 neurology & neurosurgery