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Pediatrics (Evanston), ISSN 1098-4275, 2018, Volume 141, Issue Supplement 4, pp. S272 - S279
OBJECTIVES: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by challenges in social communication and interaction and restricted... 
PEDIATRICS | IDENTIFICATION | INTERVENTION | YOUNG-CHILDREN | AGE | Parent and child | Diagnosis | Grounded theory | Analysis | Methods | Pervasive developmental disorders | Autism | Social behavior | Early experience | Diagnostic tests | Childrens health | Parents | Diagnostic systems | Children | Medical diagnosis | Neurodevelopmental disorders
Journal Article
Hastings Center Report, ISSN 0093-0334, 07/2018, Volume 48, Issue S2, pp. S20 - S22
Despite a century of progress in medical knowledge, many diagnostic odysseys end in disappointment, especially when the child has a developmental disorder... 
MEDICAL ETHICS | DEVELOPMENTAL DELAY | DIAGNOSTIC ODYSSEY | SOCIAL SCIENCES, BIOMEDICAL | HEALTH CARE SCIENCES & SERVICES | ETHICS | Usage | Child development | Diagnostic equipment (Medical) | Analysis | Child development deviations | Diagnosis | Family nursing | Management | Developmental disabilities
Journal Article
Molecular Imaging and Biology, ISSN 1536-1632, 10/2015, Volume 17, Issue 5, pp. 620 - 624
...]mercaptoacetyltriglycerine ([99mTc]MAG3) renography to assist interpretation in a semi-automated (Xeleris, GE) compared to a manual (Picker, Odyssey) software package.Forty-eight subjects approved for renal donation were evaluated... 
Medicine & Public Health | Imaging / Radiology | Reference range | ROI | Tc-99m-MAG3 renography | RENAL-FUNCTION | TC-99M MAG3 | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Radioisotope Renography - methods | Humans | Image Interpretation, Computer-Assisted - methods | Middle Aged | Radioisotope Renography - standards | Male | Reference Values | Young Adult | Kidney - diagnostic imaging | Adult | Female | Aged | Software | Technetium Tc 99m Mertiatide - therapeutic use
Journal Article
Journal Article
Clinical genetics, ISSN 0009-9163, 2016, Volume 89, Issue 6, pp. 700 - 707
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 05/2017, Volume 5, Issue 3, pp. 269 - 279
Background We characterized the pharmacogenomics (PGx) results received by diagnostic odyssey patients as secondary findings during clinical whole exome sequencing (WES... 
precision medicine | pharmacogenomics | secondary findings | Exome sequencing | pediatric | SYSTEM | VARIANTS | KNOWLEDGE | GENOMIC MEDICINE | GENOTYPES | IMPLEMENTATION CONSORTIUM GUIDELINES | SUPPORT | CYP2C9 | ONTOGENY | GENETICS & HEREDITY | EXPRESSION | Medical personnel | Drugs | Physicians | Genomics | Genes | Medical records | Pharmacology | Genomes | Patients | Demographics | Precision medicine | Population | Genetics | Diagnostic systems | Deoxyribonucleic acid--DNA
Journal Article
European Heart Journal, ISSN 0195-668X, 7/2009, Volume 30, Issue 14, pp. 11710 - 11710
...:987991. CARDIOVASCULAR FLASHLIGHT ... doi:10.1093/eurheartj/ehp075Online publish-ahead-of-print 18 March 2009 A diagnostic odyssey: young woman with chest pain Ilan... 
CARDIAC & CARDIOVASCULAR SYSTEMS | Coronary Angiography | Guideline Adherence | Coronary Aneurysm - diagnostic imaging | Humans | Middle Aged | Aneurysm, Dissecting - diagnostic imaging | Female | Tomography, X-Ray Computed | Chest Pain - complications
Journal Article
Journal of Hepatology, ISSN 0168-8278, 06/2019, Volume 70, Issue 6, pp. 1057 - 1059
Journal Article
PloS one, ISSN 1932-6203, 03/2020, Volume 15, Issue 3, p. e0230677
Background The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). The aim of the present study was to... 
MANAGEMENT | CLINICAL-TRIAL | SMA | MULTIDISCIPLINARY SCIENCES | NATURAL-HISTORY | TYPE-1 | CHILDHOOD | Spinal muscular atrophy | Pediatrics | Neurosciences | Families & family life | Patients | Genetic screening | Children & youth | Atrophy | Neurology | Hospitals | Genetic counseling | Signs | Diagnostic systems | Mutation | Diagnosis | Age
Journal Article