X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (3911) 3911
Book Review (731) 731
Publication (476) 476
Book Chapter (42) 42
Conference Proceeding (28) 28
Dissertation (10) 10
Book / eBook (3) 3
Government Document (3) 3
Magazine Article (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (3152) 3152
humans (2856) 2856
female (1665) 1665
male (1634) 1634
genotype-phenotype correlation (1540) 1540
mutation (1533) 1533
phenotype (1467) 1467
genetics & heredity (1339) 1339
genotype (1204) 1204
adult (1050) 1050
child (892) 892
genetic aspects (833) 833
genotype-phenotype correlations (806) 806
adolescent (799) 799
child, preschool (700) 700
middle aged (597) 597
mutations (555) 555
dna mutational analysis (531) 531
infant (504) 504
pedigree (483) 483
gene (477) 477
genetics (463) 463
analysis (458) 458
genes (444) 444
young adult (413) 413
genotype-phenotype (405) 405
research (404) 404
animals (387) 387
genetic association studies (380) 380
identification (378) 378
diagnosis (357) 357
gene mutations (346) 346
genotype & phenotype (336) 336
biochemistry & molecular biology (311) 311
genotype–phenotype correlation (307) 307
aged (302) 302
alleles (299) 299
genetic research (290) 290
genetic predisposition to disease (282) 282
disease (277) 277
pediatrics (272) 272
neurosciences (263) 263
article (260) 260
mutation - genetics (260) 260
risk factors (260) 260
infant, newborn (242) 242
clinical neurology (241) 241
base sequence (240) 240
expression (236) 236
molecular sequence data (228) 228
medicine, research & experimental (222) 222
mutation, missense (215) 215
genetic disorders (202) 202
genetic testing (202) 202
children (201) 201
proteins (200) 200
polymorphism, single nucleotide (191) 191
polymerase chain reaction (190) 190
spectrum (190) 190
heterozygote (187) 187
endocrinology & metabolism (186) 186
exons (182) 182
oncology (175) 175
phenotypes (175) 175
medicine & public health (174) 174
genomics (173) 173
health aspects (171) 171
protein (167) 167
patients (166) 166
family (164) 164
cancer (163) 163
genotypes (162) 162
gene frequency (161) 161
care and treatment (157) 157
cohort studies (154) 154
medical research (154) 154
gene expression (153) 153
population (151) 151
age of onset (144) 144
amino acid sequence (140) 140
genotype–phenotype (138) 138
polymorphism, genetic (137) 137
natural-history (136) 136
families (135) 135
abridged index medicus (134) 134
point mutation (134) 134
genetic variation (133) 133
physiological aspects (133) 133
syndrome (132) 132
life sciences (129) 129
mice (129) 129
urology & nephrology (129) 129
medicine (127) 127
asian continental ancestry group - genetics (126) 126
human genetics (126) 126
medicine, experimental (124) 124
neurology (123) 123
prevalence (123) 123
medical genetics (121) 121
cell biology (120) 120
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (3647) 3647
Chinese (222) 222
Japanese (38) 38
German (26) 26
French (20) 20
Spanish (7) 7
Czech (2) 2
Korean (2) 2
Russian (2) 2
Arabic (1) 1
Hungarian (1) 1
Slovak (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 133, Issue 4, pp. 1099 - 1108.e12
Journal Article
Journal Article
MITOCHONDRION, ISSN 1567-7249, 05/2019, Volume 46, pp. 262 - 269
Autosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central... 
Autosomal dominant | SENSORINEURAL HEARING-LOSS | Meta-analysis | Hearing loss | DELETION | CELL BIOLOGY | Mitochondria | Optic atrophy | NEUROPATHY | OPA1 | GENE | OPHTHALMOPLEGIA | DISEASE | GENETICS & HEREDITY | Ataxia | DEAFNESS | PATIENT | Genotype/phenotype | JAPANESE PATIENTS | Myopathy | PLUS
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2007, Volume 44, Issue 10, pp. 621 - 628
Journal Article