X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (129) 129
male (106) 106
index medicus (102) 102
mutation (101) 101
female (93) 93
pedigree (89) 89
genetics & heredity (87) 87
genetic aspects (58) 58
genetics (57) 57
child (47) 47
research (46) 46
linkage analysis (44) 44
animals (43) 43
gene mutations (37) 37
gene (36) 36
homozygote (36) 36
chromosome mapping (34) 34
consanguinity (32) 32
adult (31) 31
child, preschool (31) 31
genes (31) 31
genetic linkage (31) 31
proteins (31) 31
base sequence (28) 28
genetic disorders (28) 28
molecular sequence data (28) 28
adolescent (27) 27
mice (27) 27
polymorphism, single nucleotide (26) 26
mutations (25) 25
genomics (24) 24
article (23) 23
disease (23) 23
protein (23) 23
dna mutational analysis (22) 22
amino acid sequence (21) 21
biochemistry & molecular biology (21) 21
physiological aspects (21) 21
syndrome (20) 20
genomes (19) 19
genotype (19) 19
infant (19) 19
phenotype (19) 19
genes, recessive (18) 18
haplotypes (18) 18
health aspects (18) 18
risk factors (18) 18
analysis (17) 17
chromosomes (16) 16
middle aged (16) 16
gene expression (15) 15
identification (15) 15
lod score (15) 15
mutation, missense (15) 15
abnormalities, multiple - genetics (14) 14
exons (14) 14
expression (14) 14
family (14) 14
report (14) 14
sequence analysis, dna (14) 14
zebrafish (14) 14
cells (13) 13
deafness (13) 13
exome (13) 13
intellectual disability - genetics (13) 13
rats (13) 13
research article (13) 13
frameshift mutation (12) 12
infant, newborn (12) 12
siblings (12) 12
young adult (12) 12
genotype & phenotype (11) 11
microcephaly - genetics (11) 11
program (11) 11
tool (11) 11
acyclic, carbocyclic or heterocyclic compounds containingelements other than carbon, hydrogen, halogen, oxygen, nitrogen,sulfur, selenium or tellurium (10) 10
cell line (10) 10
chemistry (10) 10
codon, nonsense (10) 10
deoxyribonucleic acid--dna (10) 10
family health (10) 10
genes, dominant (10) 10
genome-wide association study (10) 10
kidney diseases, cystic - genetics (10) 10
medicine, research & experimental (10) 10
metallurgy (10) 10
organic chemistry (10) 10
abridged index medicus (9) 9
diagnosis (9) 9
genetic research (9) 9
human genetics (9) 9
maps (9) 9
membrane proteins - genetics (9) 9
mutation - genetics (9) 9
signal transduction (9) 9
zebrafish - genetics (9) 9
causes of (8) 8
families & family life (8) 8
hearing loss - genetics (8) 8
kidney diseases (8) 8
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


Nature Genetics, ISSN 1061-4036, 05/2013, Volume 45, Issue 5, pp. 531 - 536
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2013, Volume 45, Issue 3, pp. 262 - 268
Primary ciliary dyskinesia (PCD) is characterized by dysfunction of respiratory cilia and sperm flagella and random determination of visceral asymmetry. Here,... 
ASYMMETRY | DEFECTS | MUTANTS | DYSKINESIA | GENETICS & HEREDITY | ARMS | RADIAL SPOKES | MUTATIONS | CHLAMYDOMONAS-FLAGELLA | IDENTIFICATION | INNER | Axoneme - metabolism | Microtubule-Associated Proteins - genetics | Axonemal Dyneins - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Axonemal Dyneins - genetics | Molecular Sequence Data | Male | Kartagener Syndrome - genetics | Chlamydomonas - metabolism | Axoneme - genetics | Chlamydomonas - ultrastructure | Sperm Tail - metabolism | Axonemal Dyneins - ultrastructure | Plasminogen Activator Inhibitor 1 - metabolism | Axoneme - ultrastructure | Chlamydomonas - genetics | Algal Proteins - genetics | Cilia - ultrastructure | Plasminogen Activator Inhibitor 1 - genetics | Amino Acid Sequence | Cytoskeleton - genetics | Kartagener Syndrome - physiopathology | Cilia - metabolism | Cilia - genetics | Carrier Proteins - genetics | Ciliary Motility Disorders - pathology | Sperm Tail - ultrastructure | Cytoskeleton - metabolism | Kartagener Syndrome - metabolism | Mutation | Ciliary Motility Disorders - genetics | Genetic disorders | Gene mutations | Dynein | Physiological aspects | Genetic aspects | Research | Health aspects | Genetic screening | Motility | Genes | Algae | Cloning | Colleges & universities | Genomes | Data bases | Molecular weight | Defects | Proteins | Microscopy | Proteomics | Mass spectrometry | Clinical Medicine | Oto-rhino-laryngologi | Medical and Health Sciences | Medicin och hälsovetenskap | Otorhinolaryngology | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 297 - 315
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2013, Volume 8, Issue 11, p. e78496
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2011, Volume 121, Issue 7, pp. 2662 - 2667
Journal Article
Nature Genetics, ISSN 1061-4036, 2011, Volume 43, Issue 1, pp. 23 - 26
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2006, Volume 38, Issue 12, pp. 1397 - 1405
Journal Article