X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (797) 797
Publication (121) 121
Newsletter (17) 17
Book / eBook (6) 6
Book Chapter (6) 6
Book Review (5) 5
Newspaper Article (2) 2
Conference Proceeding (1) 1
Data Set (1) 1
Magazine Article (1) 1
Reference (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (610) 610
male (420) 420
female (406) 406
nystagmus (363) 363
ophthalmology (298) 298
index medicus (279) 279
child (253) 253
adult (237) 237
child, preschool (201) 201
genetic structures (178) 178
infant (178) 178
eye diseases (176) 176
adolescent (175) 175
pedigree (173) 173
mutation (159) 159
congenital nystagmus (144) 144
nystagmus, pathologic - genetics (131) 131
genetic disorders (122) 122
nystagmus, congenital - genetics (121) 121
middle aged (119) 119
sense organs (102) 102
genetics & heredity (101) 101
visual acuity (100) 100
nystagmus, pathologic - congenital (91) 91
eye movements (89) 89
genetic aspects (80) 80
phenotype (80) 80
nystagmus, pathologic - physiopathology (79) 79
electroretinography (78) 78
gene (76) 76
nystagmus, pathologic - diagnosis (75) 75
research article (70) 70
children (69) 69
pediatrics (69) 69
aged (67) 67
magnetic resonance imaging (67) 67
research (66) 66
syndrome (64) 64
clinical neurology (62) 62
eye (62) 62
nystagmus, pathologic - complications (62) 62
albinism (61) 61
young adult (59) 59
mutations (58) 58
infantile nystagmus (57) 57
neurosciences (57) 57
biochemistry & molecular biology (56) 56
strabismus (56) 56
diagnosis (55) 55
eye proteins - genetics (55) 55
nystagmus, congenital - physiopathology (55) 55
dna mutational analysis (54) 54
membrane proteins - genetics (54) 54
eye movements - physiology (53) 53
infant, newborn (53) 53
surgery (53) 53
analysis (51) 51
patients (50) 50
animals (49) 49
cytoskeletal proteins - genetics (48) 48
visual acuity - physiology (48) 48
article (47) 47
retina (47) 47
family (46) 46
genetic linkage (45) 45
nystagmus, pathologic - etiology (45) 45
retrospective studies (45) 45
nystagmus, congenital - diagnosis (43) 43
genes (41) 41
genetic diseases, x-linked - genetics (41) 41
genetics (41) 41
congenital diseases (40) 40
polymerase chain reaction (39) 39
acuity (38) 38
care and treatment (37) 37
proteins (37) 37
vision (36) 36
x chromosome (36) 36
age (35) 35
base sequence (35) 35
blindness (34) 34
hypoplasia (33) 33
cataract (32) 32
multidisciplinary sciences (31) 31
neurology (31) 31
ataxia (30) 30
cataracts (29) 29
health aspects (29) 29
optical coherence tomography (29) 29
eye-movements (28) 28
fundus oculi (28) 28
medicine (28) 28
missense mutation (28) 28
asian continental ancestry group - genetics (27) 27
follow-up studies (27) 27
medicine & public health (27) 27
molecular sequence data (27) 27
tomography, optical coherence (27) 27
cataract - congenital (25) 25
chromosome mapping (25) 25
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (782) 782
French (12) 12
German (12) 12
Japanese (8) 8
Chinese (7) 7
Italian (4) 4
Polish (2) 2
Czech (1) 1
Slovenian (1) 1
Spanish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Genetics, ISSN 1061-4036, 11/2006, Volume 38, Issue 11, pp. 1242 - 1244
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2017, Volume 173, Issue 3, pp. 611 - 617
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties,... 
microcephaly | gastrointestinal | FGS4 | nystagmus | gastroesophageal | X‐linked intellectual disability | CASK | FG syndrome | X-linked intellectual disability | INTERRELATION | FRMD7 | MOTOR DEVELOPMENT | GENETICS & HEREDITY | Agenesis of Corpus Callosum - diagnosis | Constipation - genetics | Guanylate Kinases - genetics | Nystagmus, Congenital - diagnosis | Humans | Child, Preschool | Male | Nystagmus, Congenital - genetics | Muscle Hypotonia - diagnosis | Mental Retardation, X-Linked - genetics | Constipation - diagnosis | Agenesis of Corpus Callosum - genetics | Mental Retardation, X-Linked - diagnosis | Facies | Female | Child | Anus, Imperforate - diagnosis | Gene Expression | Muscle Hypotonia - genetics | RNA Splice Sites | Genetic Association Studies | In Situ Hybridization, Fluorescence | Muscle Hypotonia - congenital | Neuropsychological Tests | Phenotype | Anus, Imperforate - genetics | Adolescent | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Proteins | Genetic aspects | Genetic disorders | Seizures (Medicine) | Language skills | Nystagmus | Hypoplasia | Cerebellum | Phenotypes | Cognitive ability | Gene deletion | Kinases | Ribonucleic acid--RNA | Atrophy | Genotype & phenotype | Optic atrophy | Microencephaly | Clonal deletion | Guanylate kinase | Sensorimotor integration | Short term memory | Genotypes | Seizures
Journal Article
Scientific Reports, ISSN 2045-2322, 07/2015, Volume 5, Issue 1, p. 12031
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2010, Volume 18, Issue 5, pp. 544 - 552
Journal Article
by Wang, Z and Wang, M and Wang, CY and Lu, BY
ACTA BIOCHIMICA ET BIOPHYSICA SINICA, ISSN 1672-9145, 02/2019, Volume 51, Issue 2, pp. 178 - 184
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 08/2014, Volume 92, Issue 5, pp. 412 - 416
Journal Article
Journal Article