X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (4831) 4831
Newspaper Article (655) 655
Book Chapter (29) 29
Magazine Article (15) 15
Dissertation (9) 9
Trade Publication Article (9) 9
Newsletter (8) 8
Reference (5) 5
Transcript (5) 5
Web Resource (4) 4
Book / eBook (2) 2
Publication (2) 2
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (3746) 3746
microcephaly (3240) 3240
female (2451) 2451
male (2170) 2170
microcephaly - genetics (2118) 2118
genetics & heredity (1649) 1649
mutation (1228) 1228
child (1074) 1074
child, preschool (1015) 1015
infant (1007) 1007
intellectual disability - genetics (951) 951
syndrome (944) 944
zika virus (890) 890
abnormalities, multiple - genetics (802) 802
pregnancy (785) 785
phenotype (773) 773
infant, newborn (766) 766
adult (705) 705
animals (692) 692
microcephaly - pathology (631) 631
microencephaly (609) 609
adolescent (598) 598
pedigree (595) 595
research (559) 559
pediatrics (542) 542
genetic aspects (529) 529
genetics (481) 481
proteins (459) 459
genes (458) 458
microcephaly - diagnosis (446) 446
mutations (444) 444
brain (433) 433
infections (416) 416
neurosciences (365) 365
clinical neurology (357) 357
magnetic resonance imaging (354) 354
microcephaly - complications (343) 343
mice (341) 341
intellectual disabilities (331) 331
mental retardation (328) 328
intellectual disability (325) 325
chromosome deletion (323) 323
gene (321) 321
birth defects (315) 315
health aspects (315) 315
karyotyping (312) 312
genetic disorders (309) 309
epilepsy (306) 306
analysis (301) 301
fetuses (290) 290
medicine (285) 285
congenital diseases (282) 282
consanguinity (275) 275
patients (270) 270
brain - pathology (263) 263
viruses (259) 259
developmental disabilities - genetics (243) 243
brain research (242) 242
biochemistry & molecular biology (238) 238
research article (237) 237
genomes (236) 236
epidemics (233) 233
genomics (231) 231
protein (229) 229
abnormalities, multiple - pathology (224) 224
diagnosis (224) 224
facies (224) 224
gene mutations (222) 222
medical research (222) 222
age (221) 221
risk factors (221) 221
disease (217) 217
mental-retardation (215) 215
phenotypes (215) 215
genes, recessive (213) 213
nerve tissue proteins - genetics (211) 211
cell biology (210) 210
children (210) 210
face - abnormalities (210) 210
mosquitoes (210) 210
microcephaly - etiology (209) 209
seizures (209) 209
growth disorders - genetics (208) 208
vector-borne diseases (206) 206
womens health (205) 205
gene expression (204) 204
chromosome aberrations (203) 203
genotype & phenotype (200) 200
studies (200) 200
deoxyribonucleic acid--dna (198) 198
dwarfism - genetics (196) 196
infection (195) 195
public health (195) 195
nervous system (189) 189
multidisciplinary sciences (185) 185
zika virus infection - epidemiology (183) 183
dna mutational analysis (181) 181
intellectual disability - diagnosis (179) 179
microcephaly - physiopathology (178) 178
young adult (178) 178
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (5346) 5346
French (74) 74
German (58) 58
Spanish (35) 35
Japanese (23) 23
Portuguese (17) 17
Italian (12) 12
Russian (9) 9
Chinese (7) 7
Polish (7) 7
Persian (5) 5
Romanian (5) 5
Czech (4) 4
Hungarian (4) 4
Dutch (3) 3
Danish (2) 2
Norwegian (2) 2
Turkish (2) 2
Bulgarian (1) 1
Hebrew (1) 1
Korean (1) 1
Serbian (1) 1
Slovak (1) 1
Swedish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American journal of human genetics, ISSN 0002-9297, 2016, Volume 99, Issue 3, pp. 695 - 703
Journal Article
Science (American Association for the Advancement of Science), ISSN 0036-8075, 2012, Volume 338, Issue 6114, pp. 1619 - 1622
Journal Article
Nature neuroscience, ISSN 1546-1726, 2010, Volume 13, Issue 5, pp. 551 - 558
Brain structure and size require precise division of neural stem cells (NSCs), which self-renew and generate intermediate neural progenitors (INPs) and... 
HUMAN-CHROMOSOMES | PROTEIN | LIS1 EXPRESSION | LISSENCEPHALY GENE | SECKEL-SYNDROME | NASHI | SPINDLE ORIENTATION | NEUROGENESIS | NEUROSCIENCES | MESSENGER-RNA LOCALIZATION | CEREBRAL CORTICAL SIZE | Brain - embryology | Microcephaly - genetics | Embryo, Mammalian | Homeodomain Proteins - metabolism | Humans | Apoptosis - genetics | Green Fluorescent Proteins - genetics | RNA, Messenger - metabolism | Neurogenesis - genetics | DNA Mutational Analysis | Organ Size - genetics | Repressor Proteins - metabolism | Animals, Newborn | Oligonucleotide Array Sequence Analysis - methods | Repressor Proteins - genetics | Genotype | Mice, Transgenic | In Situ Nick-End Labeling - methods | Mutation - genetics | T-Box Domain Proteins - metabolism | Eye Proteins - metabolism | Brain - pathology | Mice | HeLa Cells | Paired Box Transcription Factors - genetics | Neurons - pathology | Age Factors | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Gene Expression Regulation, Developmental - genetics | Brain - growth & development | Cell Differentiation - genetics | 1-Alkyl-2-acetylglycerophosphocholine Esterase - genetics | Transfection | Microcephaly - pathology | Microcephaly - physiopathology | Bromodeoxyuridine - metabolism | Eye Proteins - genetics | Nuclear Proteins - genetics | RNA Interference - physiology | Cell Division - genetics | Mice, Inbred C57BL | Gene Expression Profiling - methods | Nuclear Proteins - metabolism | PAX6 Transcription Factor | Nerve Tissue Proteins - genetics | T-Box Domain Proteins - genetics | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | 1-Alkyl-2-acetylglycerophosphocholine Esterase - metabolism | Animals | Stem Cells - physiology | Paired Box Transcription Factors - metabolism | Animal experimentation | Axons | Usage | Brain research | Cell division | Physiological aspects | Causes of | Research | Microcephaly | Mental retardation | Risk factors
Journal Article
Journal Article
Molecular cell, ISSN 1097-2765, 2011, Volume 44, Issue 4, pp. 660 - 666
How pseudouridylation (Ψ), the most common and evolutionarily conserved modification of rRNA, regulates ribosome activity is poorly understood. Medically, Ψ is... 
PROTEIN | ENTRY SITE | INITIATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | IN-VIVO | DYSKERATOSIS-CONGENITA | MEDIATED TRANSLATION | COMPONENT | INHIBITORS | MUTATIONS | EXPRESSION | CELL BIOLOGY | Protein Biosynthesis | Hydro-Lyases - deficiency | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Saccharomyces cerevisiae - genetics | Humans | Ribonucleoproteins, Small Nuclear - genetics | Ribosomes - metabolism | Fetal Growth Retardation - genetics | Microcephaly - enzymology | Dyskeratosis Congenita - genetics | RNA, Ribosomal - genetics | Intellectual Disability - genetics | Nuclear Proteins - deficiency | Cell Cycle Proteins - genetics | Intellectual Disability - enzymology | RNA, Transfer - genetics | Hydro-Lyases - metabolism | Hydro-Lyases - genetics | Microtubule-Associated Proteins - deficiency | Nuclear Proteins - genetics | RNA, Transfer - chemistry | Binding Sites | Fetal Growth Retardation - enzymology | Genes, Reporter | Transduction, Genetic | Luciferases - analysis | RNA, Transfer - metabolism | RNA, Ribosomal - chemistry | Ribosomes - chemistry | RNA, Ribosomal - metabolism | Ribonucleoproteins, Small Nuclear - deficiency | Cell Cycle Proteins - deficiency | Saccharomyces cerevisiae Proteins - genetics | Dyskeratosis Congenita - enzymology | Sequence Homology, Amino Acid | Animals | Plasmids | Saccharomyces cerevisiae - enzymology | Mice | Mutation | Cricket | Chemical properties | Paralysis | Molecular genetics | Cells | Transfer RNA | Dyskeratosis | Fidelity | RNA modification | Internal ribosome entry site | Translation | tRNA | rRNA | Ribosomes | X chromosome | pseudouridylation | Evolution
Journal Article
PLoS genetics, ISSN 1553-7390, 05/2016, Volume 12, Issue 5, p. e1006037
Journal Article
Journal Article
PLoS genetics, ISSN 1553-7404, 2012, Volume 8, Issue 11, p. e1002945
...]. Five loci conferring SS have been described with four genes identified [5,6]. The first causal genetic defect identified for SS was the Ataxia-Telangiectasia... 
H2AX | PRIMORDIAL DWARFISM | PHOSPHORYLATION | DNA-DAMAGE RESPONSE | ORIGIN RECOGNITION COMPLEX | II MOPD-II | GENETICS & HEREDITY | STRESS | MEIER-GORLIN SYNDROME | LOCUS | SSDNA | Osteochondrodysplasias - pathology | Microcephaly - genetics | Growth Disorders - pathology | Humans | Fetal Growth Retardation - genetics | Male | Micrognathism - pathology | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | RNA Splicing | Osteochondrodysplasias - genetics | Microcephaly - pathology | Patella - abnormalities | Cell Cycle Proteins - genetics | Female | Dwarfism - pathology | Protein-Serine-Threonine Kinases - metabolism | Congenital Microtia | Ear - abnormalities | Micrognathism - genetics | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Protein-Serine-Threonine Kinases - genetics | Signal Transduction - genetics | Ataxia Telangiectasia Mutated Proteins | Codon, Nonsense | DNA-Binding Proteins - genetics | Fetal Growth Retardation - pathology | Patella - pathology | Dwarfism - genetics | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Heterozygote | Ear - pathology | Adaptor Proteins, Signal Transducing - metabolism | Growth Disorders - genetics | Gene mutations | Seckel syndrome | Physiological aspects | Development and progression | Ataxia telangiectasia | Genetic aspects | Research | Science | Medical research | Mutation | Genes
Journal Article
PloS one, ISSN 1932-6203, 2010, Volume 5, Issue 5, p. e10770
A cardinal feature of malignant melanoma is its metastatic propensity. An incomplete view of the genetic events driving metastatic progression has been a... 
NUCLEOTIDE POLYMORPHISM ARRAYS | BREAST-CANCER | PROTEIN-KINASE PATHWAY | LUNG-CANCER | UVEAL MELANOMA | MULTIDISCIPLINARY SCIENCES | CUTANEOUS MELANOMA | CELL CARCINOMAS | COPY NUMBER ANALYSIS | MALIGNANT-MELANOMA | HUMAN HEPATOCELLULAR-CARCINOMA | Skin Neoplasms - pathology | Gene Dosage - genetics | Inhibitor of Apoptosis Proteins | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Neoplasm Invasiveness | Genomics | Humans | Gene Expression Regulation, Neoplastic | Melanoma - pathology | Disease Progression | Genome, Human - genetics | Neoplasm Metastasis - genetics | Comparative Genomic Hybridization | Melanoma - genetics | Gene Deletion | Skin Neoplasms - genetics | Gene Amplification - genetics | Gene Rearrangement - genetics | DNA microarrays | Genes | Genetic research | Development and progression | Genetic aspects | Metastasis | Diagnosis | Comparative analysis | Deregulation | Oncology | Genomes | Tissue analysis | Microcephaly | Drug development | Tissues | Human tissues | Medical schools | Lymph nodes | Metastases | Liver cancer | Chromosomes | Deoxyribonucleic acid--DNA | Statistical analysis | Dermatology | Melanoma | Breast cancer | Survivin | Gene expression | Pathology | Thyroid cancer | Hospitals | Womens health | Correlation analysis | Medical prognosis | Mutation | Cancer | Deoxyribonucleic acid | DNA
Journal Article