X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (113) 113
Patent (12) 12
Book Review (7) 7
Publication (5) 5
Reference (3) 3
Book Chapter (2) 2
Conference Proceeding (2) 2
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (76) 76
animals (55) 55
humans (50) 50
mice (39) 39
genetics & heredity (35) 35
developmental biology (29) 29
mutation (23) 23
cell biology (22) 22
male (22) 22
female (21) 21
gene (19) 19
molecular sequence data (18) 18
biochemistry & molecular biology (17) 17
membrane proteins - genetics (17) 17
phenotype (17) 17
gene expression regulation, developmental (16) 16
patched receptors (16) 16
signal transduction (15) 15
expression (14) 14
human homolog (14) 14
receptors, cell surface (14) 14
amino acid sequence (13) 13
patched-1 receptor (13) 13
sonic hedgehog (13) 13
basal cell nevus syndrome - genetics (12) 12
beer (12) 12
biochemistry (12) 12
chemistry (12) 12
compositions thereof (12) 12
culture media (12) 12
enzymology (12) 12
human necessities (12) 12
hygiene (12) 12
medical or veterinary science (12) 12
metallurgy (12) 12
microbiology (12) 12
microorganisms or enzymes (12) 12
mutation or genetic engineering (12) 12
organic chemistry (12) 12
peptides (12) 12
preparations for medical, dental, or toilet purposes (12) 12
propagating, preserving or maintaining microorganisms (12) 12
protein (12) 12
proteins (12) 12
research (12) 12
spirits (12) 12
vinegar (12) 12
wine (12) 12
hedgehog proteins (11) 11
hedgehog proteins - metabolism (11) 11
base sequence (10) 10
chromosome mapping (10) 10
embryonic development (10) 10
in situ hybridization (10) 10
mutations (10) 10
physiological aspects (10) 10
proteins - genetics (10) 10
cloning, molecular (9) 9
compositions or test papers therefor (9) 9
condition-responsive control in microbiological orenzymological processes (9) 9
fermentation or enzyme-using processes to synthesise a desiredchemical compound or composition or to separate optical isomersfrom a racemic mixture (9) 9
general tagging of cross-sectional technologies spanning over several sections of the ipc (9) 9
general tagging of new technological developments (9) 9
genes (9) 9
investigating or analysing materials by determining theirchemical or physical properties (9) 9
measuring (9) 9
measuring or testing processes involving enzymes, nucleicacids or microorganisms (9) 9
mice, inbred c57bl (9) 9
patched (9) 9
pedigree (9) 9
physics (9) 9
polymorphism, single-stranded conformational (9) 9
processes of preparing such compositions (9) 9
receptor (9) 9
specific therapeutic activity of chemical compounds ormedicinal preparations (9) 9
technical subjects covered by former uspc (9) 9
technical subjects covered by former uspc cross-reference art collections [xracs] and digests (9) 9
technical subjects covered by former uspc cross-reference artcollections [xracs] and digests (9) 9
testing (9) 9
zebrafish (9) 9
chromosomes, human, pair 9 (8) 8
drosophila (8) 8
extremities - embryology (8) 8
gene expression (8) 8
genetic aspects (8) 8
mouse (8) 8
sequence analysis, dna (8) 8
vertebrate limb (8) 8
adult (7) 7
alleles (7) 7
apoptosis (7) 7
genetics (7) 7
gorlin syndrome (7) 7
oncology (7) 7
shh (7) 7
sonic-hedgehog (7) 7
basal cell carcinoma (6) 6
carrier proteins - genetics (6) 6
cell line (6) 6
cilia - metabolism (6) 6
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
2012, ISBN 364216482X, Volume 4, 2
Reference
PL o S Genetics (Online), ISSN 1553-7390, 09/2012, Volume 8, Issue 9, pp. e1002932 - e1002932
Journal Article
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 2017, Volume 216, Issue 1, pp. 247 - 263
Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is... 
JOUBERT-SYNDROME | CELLS | HEDGEHOG PATHWAY | INOSITOL-POLYPHOSPHATE 5-PHOSPHATASE | CANDIDA-ALBICANS | FLOOR PLATE | PROTEIN-COUPLED RECEPTOR | MUTATIONS | PLASMA-MEMBRANE | TUMOR-ANTIGEN | CELL BIOLOGY | Phosphatidylinositol Phosphates - metabolism | Eye Abnormalities - enzymology | Humans | Zinc Finger Protein Gli2 | Phosphoric Monoester Hydrolases - deficiency | Hedgehog Proteins - metabolism | Cerebellum - enzymology | Smoothened Receptor - metabolism | Cerebellum - abnormalities | Smoothened Receptor - genetics | Phosphatidylinositol 4,5-Diphosphate - metabolism | Transfection | Hedgehog Proteins - genetics | Time Factors | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Retina - enzymology | Kidney Diseases, Cystic - genetics | Cilia - enzymology | Embryo, Mammalian - enzymology | Abnormalities, Multiple - genetics | Kidney Diseases, Cystic - enzymology | Second Messenger Systems | Disease Models, Animal | Cell Line | Genetic Predisposition to Disease | Phosphoric Monoester Hydrolases - genetics | Mice, Inbred C57BL | Retinal Pigment Epithelium - enzymology | Eye Abnormalities - genetics | Mice, Knockout | Phenotype | Animals | Retina - abnormalities | Abnormalities, Multiple - enzymology | Phosphoric Monoester Hydrolases - metabolism | Kruppel-Like Transcription Factors - genetics | Embryonic development | Phosphatases | Physiological aspects | Phosphoinositides | Cell research | Research | Cilia and ciliary motion | Cellular control mechanisms | Genotype & phenotype | Genetics | Birth defects | Genetic disorders | Cellular biology | Gene expression | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 515 - 523
Journal Article
Nature, ISSN 0028-0836, 2014, Volume 511, Issue 7507, pp. 46 - 51
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 932 - 944
Journal Article
Journal Article