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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
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 11/2019
Journal Article
Neurology, ISSN 0028-3878, 03/2016, Volume 86, Issue 13, pp. 1260 - 1261
Classic infantile Pompe disease is a progressive lysosomal glycogen storage disorder, which, if untreated, leads to severe skeletal muscle weakness, inability... 
ENZYME REPLACEMENT THERAPY | CLINICAL NEUROLOGY | Cognition Disorders - diagnosis | Cognition Disorders - complications | Glycogen Storage Disease Type II - complications | Humans | Male | Glycogen Storage Disease Type II - diagnosis | Child
Journal Article
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
Neonatology, ISSN 1661-7800, 04/2019, Volume 115, Issue 3, pp. 277 - 277
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 01/2018, Volume 192, pp. 33 - 40.e2
To assess the predictive value of a novel magnetic resonance imaging (MRI) score, which includes diffusion-weighted imaging as well as assessment of the deep... 
score | MRI | hypoxic-ischemic encephalopathy | hypothermia | outcome | WHOLE-BODY HYPOTHERMIA | NEONATAL ENCEPHALOPATHY | SPECTROSCOPY | BRAIN-INJURY | HYPOXIC-ISCHEMIC ENCEPHALOPATHY | INFANTS | RANDOMIZED-TRIAL | PEDIATRICS | TERM | NEWBORNS | Predictive Value of Tests | Brain - diagnostic imaging | Follow-Up Studies | Humans | Asphyxia Neonatorum - mortality | Child, Preschool | Male | Hypoxia-Ischemia, Brain - diagnostic imaging | Cerebral Palsy - diagnosis | Female | Hypoxia-Ischemia, Brain - therapy | Retrospective Studies | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Severity of Illness Index | Asphyxia Neonatorum - therapy | Developmental Disabilities - etiology | Decision Support Techniques | Logistic Models | Treatment Outcome | Asphyxia Neonatorum - diagnostic imaging | Hypoxia-Ischemia, Brain - complications | Cerebral Palsy - etiology | Diffusion Magnetic Resonance Imaging | Hypoxia-Ischemia, Brain - mortality | Hypothermia, Induced | Asphyxia Neonatorum - complications | Prognosis | Child development | Magnetic resonance imaging | Infants | Asphyxia | Health aspects | Hypothermia | CP, Cerebral palsy | BSITD-III, Bayley Scales of Infant and Toddler Development, third edition | WISC-IV-SV, Wechsler Intelligence Scale for Children, fourth edition, Swedish version | WPPSI-III-NL, Wechsler Preschool and Primary Scale of Intelligence, third edition, Dutch version | MRI, Magnetic resonance imaging | GMFCS, Gross Motor Function Classification System | HIE, Hypoxic-ischemic encephalopathy | NAA, N-acetyl aspartate | 1H-MRS, Proton magnetic resonance spectroscopy | ADC, Apparent diffusion coefficient | DWI, Diffusion-weighted image
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
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S42 - S42
Journal Article
Journal Article
Radiology, ISSN 0033-8419, 12/2013, Volume 269, Issue 3, pp. 879 - 886
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Journal Article
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