X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (37) 37
female (29) 29
male (28) 28
index medicus (22) 22
child, preschool (20) 20
child (18) 18
infant (16) 16
clinical neurology (15) 15
pediatrics (15) 15
mutation (12) 12
adolescent (11) 11
children (11) 11
phenotype (10) 10
genetics & heredity (9) 9
magnetic resonance imaging (9) 9
adult (7) 7
disorders (7) 7
genetics (7) 7
neurology (7) 7
vision disorders - etiology (7) 7
cerebellum (6) 6
genes (6) 6
ophthalmology (6) 6
patients (6) 6
prevalence (6) 6
vision disorders - diagnosis (6) 6
vision disorders - physiopathology (6) 6
brain (5) 5
cerebellum - abnormalities (5) 5
child development (5) 5
cohort studies (5) 5
diagnosis (5) 5
dna mutational analysis (5) 5
infant, newborn (5) 5
mri (5) 5
neuropsychological tests (5) 5
research (5) 5
antigens, neoplasm - genetics (4) 4
brain - abnormalities (4) 4
firearms (4) 4
follow-up studies (4) 4
gene mutations (4) 4
italy (4) 4
joubert syndrome (4) 4
middle aged (4) 4
oxidative stress (4) 4
syndrome (4) 4
abnormalities, multiple (3) 3
acuity (3) 3
alleles (3) 3
amino acid sequence (3) 3
analysis (3) 3
brain - physiopathology (3) 3
cerebellar vermis (3) 3
cerebral palsy - complications (3) 3
cerebral palsy - rehabilitation (3) 3
cognition disorders - etiology (3) 3
disability evaluation (3) 3
disease (3) 3
dysplasia (3) 3
electroencephalography (3) 3
epilepsy (3) 3
erythrocytes (3) 3
genetic disorders (3) 3
genotype & phenotype (3) 3
hindbrain (3) 3
infants (3) 3
intellectual disability - diagnosis (3) 3
internal medicine (3) 3
iron release (3) 3
lesions (3) 3
medicine (3) 3
medicine & public health (3) 3
membrane proteins - genetics (3) 3
molecular sequence data (3) 3
murders & murder attempts (3) 3
mutations (3) 3
neoplasm proteins - genetics (3) 3
neurodevelopmental disorders (3) 3
ocular motility disorders - diagnosis (3) 3
pedigree (3) 3
periventricular leukomalacia (3) 3
physiological aspects (3) 3
prognosis (3) 3
retina (3) 3
retina - abnormalities (3) 3
retinal degeneration (3) 3
retinal dystrophy (3) 3
retinitis-pigmentosa (3) 3
spasms, infantile - physiopathology (3) 3
stabbings (3) 3
visual acuity (3) 3
visual pathways - pathology (3) 3
young adult (3) 3
young-children (3) 3
abnormal eye-movements (2) 2
abnormalities (2) 2
abnormalities, multiple - diagnosis (2) 2
abnormalities, multiple - genetics (2) 2
abridged index medicus (2) 2
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal Article
by Travaglini, Lorena and Brancati, Francesco and Silhavy, Jennifer and Iannicelli, Miriam and Nickerson, Elizabeth and Elkhartoufi, Nadia and Scott, Eric and Spencer, Emily and Gabriel, Stacey and Thomas, Sophie and Ben-Zeev, Bruria and Bertini, Enrico and Boltshauser, Eugen and Chaouch, Malika and Cilio, Maria Roberta and de Jong, Mirjam M and Kayserili, Hulya and Ogur, Gonul and Poretti, Anea and Signorini, Sabrina and Uziel, Graziella and Zaki, Maha S and Johnson, Colin and Attié-Bitach, Tania and Gleeson, Joseph G and Valente, Enza Maria and Ali Pacha, L and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and Koch, J and Freilinger, M and D'Hooghe, M and Sznajer, Y and Vilain, C and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Dakovic, I and Loncarevic, D and Mejaski-Bosnjak, V and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Marti, I and Pinard, J. M and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Verloes, A and Touraine, R and Koenig, M and Dollfus, H and Flori, E and Fradin, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Penzien, J. M and Bussmann, C and Merkenschlager, A and Philippi, H and Kurlemann, G and Grundmann, K and Dacou-Voutetakis, C and Kitsiou Tzeli, S and Pons, R and Jerney, J and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Girisha, K. M and Doshi, H and Udani, V and Kaul, M and Stuart, B and Magee, A and Spiegel, R and Shalev, S and Mandel, H and Lev, D and Michelson, M and Idit, M and Ben-Zeev, B and Gershoni-Baruch, R and Ficcadenti, A and Fischetto, R and Gentile, M and Della Monica, M and Pezzani, M and Graziano, C and Seri, M and Benedicenti, F and ... and Int JSRD Study Grp and International JSRD Study Group and the International JSRD Study Group
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0150101
Journal Article
Journal Article
European Radiology, ISSN 0938-7994, 12/2017, Volume 27, Issue 12, pp. 5080 - 5092
Journal Article
BMC MEDICAL GENOMICS, ISSN 1755-8794, 09/2018, Volume 11, Issue 1, pp. 87 - 9
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2016, Volume 170, Issue 12, pp. 3115 - 3124
Journal Article
Developmental Medicine and Child Neurology, ISSN 0012-1622, 2019
To develop and validate the Visual Function Classification System (VFCS), which was created to classify how children with cerebral palsy (CP) use visual... 
Journal Article
Human Genetics, ISSN 0340-6717, 2015, Volume 134, Issue 1, pp. 123 - 126
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2015, Volume 20, Issue 1, pp. 188 - 191
Abstract Background/purpose Neuroimaging plays a fundamental role in the diagnosis of Dandy Walker malformation (DWM), a posterior fossa anomaly that is... 
Pediatrics | Neurology | Cerebellar hemorrhage | Fetal MRI | MRI | Pediatric | Dandy–Walker malformation | Dandy-Walker malformation
Journal Article