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Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 4 - 4
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report... 
Joubert syndrome and related disorders | neuroimaging; molar tooth sign | cerebellar malformation | Oral-facial-digital syndrome type VI | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | VARADI-SYNDROME | SYNDROME-RELATED DISORDERS | HYPOTHALAMIC HAMARTOMA | FOLLOW-UP | neuroimaging | JOUBERT-SYNDROME | PSYCHOMOTOR RETARDATION | HIRSCHSPRUNG-DISEASE | molar tooth sign | OROFACIODIGITAL-SYNDROME | Abnormalities, Multiple - pathology | Kidney Diseases, Cystic - classification | Kidney Diseases, Cystic - diagnosis | Cerebellar Diseases - classification | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Male | Polydactyly - diagnosis | Cerebellum - abnormalities | Young Adult | Cerebellar Diseases - pathology | Kidney Diseases, Cystic - genetics | Adult | Female | Child | Orofaciodigital Syndromes - classification | Infant, Newborn | Neuroimaging - methods | Eye Abnormalities - diagnosis | Cerebellar Diseases - diagnosis | Eye Abnormalities - classification | Orofaciodigital Syndromes - genetics | Eye Abnormalities - genetics | Kidney Diseases, Cystic - pathology | Orofaciodigital Syndromes - pathology | Phenotype | Cerebellar Diseases - genetics | Eye Abnormalities - pathology | Abnormalities, Multiple - diagnosis | Adolescent | Retina - abnormalities | Retina - pathology | Orofaciodigital Syndromes - diagnosis | Polydactyly - pathology | Neuroimaging | Usage | Genetic aspects | Diagnosis | Research | Multiple abnormalities | Health aspects | Risk factors | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 2, pp. 238 - 248
Journal Article
Paediatric Anaesthesia, ISSN 1155-5645, 03/2018, Volume 28, Issue 3, pp. 264 - 274
Deep sedation using propofol has become a standard technique in children. This double-blinded randomized clinical trial aims to compare the clinical effects of... 
complications | airway | PACU | clinical trials | intravenous agents | age | child | Delirium | Pediatrics | Magnetic resonance imaging | Clinical trials | Phenols | Anesthesia | Nausea | Nuclear magnetic resonance--NMR | Vomiting | Index Medicus
Journal Article