X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
article (5) 5
humans (5) 5
index medicus (5) 5
mutation (5) 5
signal transduction (5) 5
abnormalities, multiple - genetics (3) 3
female (3) 3
genetics & heredity (3) 3
adults (2) 2
apoptosis (2) 2
asphyxiating thoracic dystrophy (2) 2
body regions (2) 2
bone (2) 2
bone morphogenetic proteins - metabolism (2) 2
chondrocytes (2) 2
cilia (2) 2
ciliopathy (2) 2
dystrophy (2) 2
expression (2) 2
gene (2) 2
genes (2) 2
genotype (2) 2
growth (2) 2
intraflagellar transport (2) 2
jeune syndrome (2) 2
kiaa0586 cause (2) 2
lumbar vertebrae - abnormalities (2) 2
male (2) 2
multidisciplinary sciences (2) 2
musculoskeletal diseases - genetics (2) 2
phenotype (2) 2
polydactyly (2) 2
proteins (2) 2
radiography (2) 2
scoliosis - congenital (2) 2
scoliosis - genetics (2) 2
skeleton (2) 2
skeleton - abnormalities (2) 2
spine (2) 2
synostosis - genetics (2) 2
thoracic vertebrae - abnormalities (2) 2
thorax (2) 2
whole exome sequencing (2) 2
abnormalities, multiple - diagnosis (1) 1
abnormalities, multiple - metabolism (1) 1
abnormalities, multiple - pathology (1) 1
abnormalities, multiple - physiopathology (1) 1
actin cytoskeleton - genetics (1) 1
actin cytoskeleton - metabolism (1) 1
adolescent (1) 1
adult (1) 1
adverse events (1) 1
age factors (1) 1
aged (1) 1
algorithms (1) 1
alleles (1) 1
analysis (1) 1
anatomy (1) 1
animal cells (1) 1
animals (1) 1
anterograde transport (1) 1
antineoplastic combined chemotherapy protocols - administration & dosage (1) 1
antineoplastic combined chemotherapy protocols - adverse effects (1) 1
antineoplastic combined chemotherapy protocols - therapeutic use (1) 1
arthritis (1) 1
articles (1) 1
artificial pancreas (1) 1
b-cell lymphoma (1) 1
behavioral health (1) 1
behavioral health care (1) 1
binding proteins (1) 1
biochemistry (1) 1
biochemistry & molecular biology (1) 1
biological tissue (1) 1
biology and life sciences (1) 1
blood sugar monitoring (1) 1
bmp signaling (1) 1
bone morphogenetic proteins - genetics (1) 1
bone-formation (1) 1
cartilage (1) 1
cartilage cells (1) 1
catheter-related thrombosis (1) 1
cell biology (1) 1
cell death (1) 1
cell processes (1) 1
cell signaling (1) 1
cellular types (1) 1
chemotherapy (1) 1
child (1) 1
children (1) 1
chondrocyte (1) 1
chondrocytes - metabolism (1) 1
chondrocytes - pathology (1) 1
cilia - genetics (1) 1
cilia - pathology (1) 1
cilia formation (1) 1
ciliopathies - diagnosis (1) 1
ciliopathies - genetics (1) 1
clinical-trial (1) 1
collagens (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Scientific Reports, ISSN 2045-2322, 09/2016, Volume 6, Issue 1, p. 34232
Short-rib polydactyly syndromes (SRPS) and Asphyxiating thoracic dystrophy (ATD) or Jeune Syndrome are recessively inherited skeletal ciliopathies... 
SIGNAL-TRANSDUCTION | JEUNE | KIAA0586 CAUSE | MULTIDISCIPLINARY SCIENCES | GROWTH | CILIOPATHY | IHH SIGNAL | BONE | TUBULIN | TRANSPORT PROTEIN | EXPRESSION | Rib | Thorax | Anterograde transport | Jeune syndrome | Tubulin | Hedgehog protein | Chondrocytes | Polydactyly | Post-translation | Skeleton | Mutation | Dystrophy | Cilia
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 18, pp. 3998 - 4011
Journal Article
Scientific Reports, ISSN 2045-2322, 02/2017, Volume 7, Issue 1, p. 41803
Journal Article
Scientific Reports (Nature Publisher Group), 02/2017, Volume 7, p. 41803
Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The... 
Vertebrae | Spine | Muscles | Dysostosis | Spondylocarpotarsal synostosis | Heterozygosity | Signal transduction | Missense mutation | Rodents | Myosin | Cytoskeleton | Transduction | Mutation
Journal Article
British Journal of Haematology, ISSN 0007-1048, 12/2017, Volume 179, Issue 5, pp. 739 - 747
Summary Treatment with dose‐adjusted EPOCH (etoposide, doxorubicin, cyclophosphamide, vincristine, prednisone) chemotherapy and rituximab (DA‐EPOCH‐R) has... 
non‐Hodgkin lymphoma | paediatric oncology | primary mediastinal B‐cell lymphoma | DA‐EPOCH‐R | non-Hodgkin lymphoma | primary mediastinal B-cell lymphoma | DA-EPOCH-R | CATHETER-RELATED THROMBOSIS | RISK-FACTORS | RESPONSE ASSESSMENT | HODGKIN-LYMPHOMA | CHEMOTHERAPY | POSITRON-EMISSION-TOMOGRAPHY | THERAPY | RITUXIMAB | DISEASE | SINGLE-INSTITUTION | HEMATOLOGY | Cyclophosphamide - administration & dosage | Thrombosis - chemically induced | Antineoplastic Combined Chemotherapy Protocols - administration & dosage | Prognosis | Age Factors | Humans | Middle Aged | Antineoplastic Combined Chemotherapy Protocols - adverse effects | Male | Positron-Emission Tomography | Cyclophosphamide - adverse effects | Young Adult | Lymphoma, Large B-Cell, Diffuse - diagnostic imaging | Mediastinal Neoplasms - drug therapy | Vincristine - administration & dosage | Adult | Female | Retrospective Studies | Radiotherapy, Adjuvant | Child | Doxorubicin - administration & dosage | Rituximab - adverse effects | Prednisone - administration & dosage | Etoposide - adverse effects | Lymphoma, Large B-Cell, Diffuse - drug therapy | Prednisone - adverse effects | Drug Administration Schedule | Lymphoma, Large B-Cell, Diffuse - pathology | Kaplan-Meier Estimate | Etoposide - administration & dosage | Treatment Outcome | Mediastinal Neoplasms - diagnostic imaging | Lymphoma, Large B-Cell, Diffuse - radiotherapy | Rituximab - administration & dosage | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Mediastinal Neoplasms - pathology | Mediastinal Neoplasms - radiotherapy | Adolescent | Vincristine - adverse effects | Aged | Neoplasm Staging | Doxorubicin - adverse effects | Lymphomas | Complications | Radiation | Positron emission | Etoposide | Rituximab | Prednisone | Radiation therapy | Patients | Survival | Doxorubicin | Vincristine | Lymphoma | Institutions | Confidence intervals | Cyclophosphamide | Chemotherapy | Lymphocytes B | Medical prognosis | Tomography | Adults | Children | Positron emission tomography | B-cell lymphoma | Non-Hodgkin lymphoma | Primary mediastinal B-cell lymphoma
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2016, Volume 12, Issue 3, p. e1005936
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2016, Volume 12, Issue 3
Spondylocarpotarsal synostosis (SCT) is an autosomal recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations... 
Physiological aspects | Genetic aspects | Transforming growth factors | Binding proteins | Cartilage cells | Growth | Proteins | Signal transduction | Mutation | Funding | Genes | Apoptosis
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.