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Pediatric Radiology, ISSN 0301-0449, 08/2015, Volume 45, Issue 9, p. 1372
BACKGROUND: To study early neurodevelopment in preterm infants, evaluation of brain maturation and injury is increasingly performed using diffusion tensor... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S42 - S42
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2015, Volume 17, Issue 11, p. 843
Two proa1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proa2(IV) chain encoded by COL4A2 and are the major component of the... 
Journal Article
Journal Article
American Journal of Roentgenology, ISSN 0361-803X, 01/2012, Volume 198, Issue 5, pp. W440 - W449
OBJECTIVE: The purpose of this article is to present and discuss the susceptibility-weighted imaging signal characteristics of the normal pediatric brain and... 
Neuroimaging | Brain | Pediatrics | Blood products | Magnetic resonance imaging | Calcification | Iron | Familiarity
Journal Article
PL o S Genetics (Online), ISSN 1553-7390, 05/2017, Volume 13, Issue 5, p. e1006809
textabstractIntegrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and... 
RNA-POLYMERASE-II | NEURONAL DEVELOPMENT | MALFORMATIONS | PROTEIN | SPLICING REGULATION | EMBRYO | 3' END FORMATION | U4ATAC SNRNA | GENETICS & HEREDITY | GENE-EXPRESSION | CORTICAL DEVELOPMENT | Wnt1 Protein | Alternative Splicing | Humans | Transcriptome | Male | Developmental Disabilities - genetics | Brain - growth & development | Mutation, Missense | RNA, Messenger - metabolism | Protein Subunits - metabolism | Brain - metabolism | Gene Deletion | HEK293 Cells | Adult | Female | Child | Developmental Disabilities - diagnosis | Fibroblasts - metabolism | Protein Subunits - genetics | RNA, Messenger - genetics | Cells, Cultured | Syndrome | Pedigree | Brain - pathology | Heterozygote | HeLa Cells | Mutation | Brain | Care and treatment | Research | Gene mutations | Abnormalities | RNA polymerases | Pediatrics | Alternative splicing | Transcription | Leukocyte migration | Gene regulation | Disorders | Colleges & universities | Editing | Genomes | Biochemistry | Gene deletion | Neurodevelopmental disorders | DNA-directed RNA polymerase | Delay | Defects | Proteins | Control | Missense mutation | Clonal deletion | Deletion | RNA processing | Bioinformatics | Ventricle (lateral) | Siblings | Maturation | Cortex | RNA polymerase | Gene expression | Ribonucleic acid--RNA | Patients | Medicine | Polymerase | Brain research | Cellular biology | Genetic engineering | Molecular biology | Differentiation | Compatibility | Retinoic acid | Cell migration | RNA polymerase II | Integrity | RNA | Ribonucleic acid
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2012, Volume 91, Issue 3, p. 533
  Polymicrogyria is a malformation of the developing cerebral cortex caused by abnormal organization and characterized by many small gyri and fusion of the... 
Proteins | Brain | Deformities | Molecular structure | Neurons | Mutation
Journal Article
Blood, ISSN 0006-4971, 11/2011, Volume 118, Issue 21, pp. 3578 - 3578
Abstract Abstract 3578 Purpose As survival rates for pediatric acute lymphoblastic leukemia (ALL) have significantly improved, awareness of side effects such... 
Journal Article
The Journal of Experimental Medicine, ISSN 0022-1007, 01/2016, Volume 213, Issue 7, pp. 1163 - 1174
textabstractPseudo-TOR CH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features... 
MEDICINE, RESEARCH & EXPERIMENTAL | AICARDI-GOUTIERES SYNDROME | DISEASE | GUIDELINES | INFECTION-LIKE SYNDROME | MUTATIONS | IMMUNOLOGY | SEQUENCING DATA | BRAIN
Journal Article
Neonatology, ISSN 1661-7800, 04/2019, Volume 115, Issue 3, pp. 277 - 277
Journal Article
Radiology, ISSN 0033-8419, 01/2011, Volume 261, Issue 2, pp. 534 - 541
PURPOSE: To assess whether architectural alterations exist in the white matter of patients with syndromic and complex craniosynostosis. MATERIALS AND METHODS:... 
Saethre-Chotzen syndrome | Anterior commissure | Apert's syndrome | Craniosynostosis | Pyramidal tracts | Substantia alba | imaging | Corpus callosum | Fornix | Anisotropy | Cingulum | Children | Diffusion
Journal Article
Journal Article
Neonatology, ISSN 1661-7800, 01/2019, Volume 115, Issue 1, pp. 89 - 93
Background: Autopsy rates in neonatal intensive care unit (NICU) patients who died are declining worldwide. Postmortem magnetic resonance imaging (MRI) is... 
Original Paper | Neonatal intensive care | Postmortem magnetic resonance imaging | Autopsy | Mortality | INTENSIVE-CARE-UNIT | PEDIATRICS | DIAGNOSTIC ERRORS | POSTMORTEM
Journal Article
Journal Article
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