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Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 17175 - 12
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2419 - 2424
Osteogenesis imperfecta (OI) is a family of heritable disorders of bone fragility. Most individuals with OI have mutations in the genes encoding type I... 
osteogenesis imperfecta | osteoporosis | WNT1 variant | FORMS | GENETICS & HEREDITY | SKELETAL CHARACTERISTICS | MUTATIONS | CHILDREN | Osteoporosis | Genetic aspects | Collagen | Genomics | Phenotypes | Collagen (type I) | Genitalia | Strabismus | Phenotypic variations | Heredity | Genomes | Mental depression | Genotype & phenotype | Fractures | Osteogenesis imperfecta | Children | Mutation | Osteogenesis
Journal Article
The American Journal of Sports Medicine, ISSN 0363-5465, 4/2019, Volume 47, Issue 5, pp. 1223 - 1229
Background: The benefits of platelet-rich plasma (PRP) are believed to be in part dependent on growth factor release after platelet activation. Platelet... 
aspirin | activation | COX-1 | NSAIDs | platelet rich plasma | SPORT SCIENCES | THROMBIN | MECHANISMS | ORTHOPEDICS | Blood platelets | Laboratories | Vascular endothelial growth factor
Journal Article
Human Gene Therapy, ISSN 1043-0342, 02/2019, Volume 30, Issue 2, pp. 225 - 235
Osteoarthritis (OA) is a degenerative disease of synovial joints characterized by progressive loss of articular cartilage, subchondral bone remodeling, and... 
Research Articles | gene therapy | helper-dependent adenovirus | lubricin | proteoglycan 4 | osteoarthritis | interleukin-1 receptor antagonist | KNEE | MEDICINE, RESEARCH & EXPERIMENTAL | MODEL | MEDIAL MENISCUS | REPAIR | PAIN | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DESTABILIZATION | GENETICS & HEREDITY | BONE | EXPRESSION
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 07/2019
Information obtained from clinical exome sequencing (ES) may impact clinical care or other aspects of a patient's life. Little is known about clinicians'... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2017, Volume 127, Issue 7, p. 2678
Journal Article
Stem Cell Reports, ISSN 2213-6711, 09/2019, Volume 13, Issue 3, pp. 545 - 558
Bone marrow stromal cells (BMSCs) that express high levels of stem cell factor (SCF) and CXC chemokine ligand 12 (CXCL12) are one crucial component of the... 
mesenchymal stromal cells | polycomb | PAX3 | niche | BMI1 | hematopoietic stem cells | adipocytes | epigenetics | TRANSFORMATION | MAINTENANCE | DEVELOPMENTAL REGULATORS | HISTONE H2A | REGENERATION | BONE-MARROW ADIPOCYTES | PROLIFERATION | DIFFERENTIATION | POLYCOMB | EXPRESSION | CELL & TISSUE ENGINEERING | CELL BIOLOGY
Journal Article
Cancer Research, ISSN 0008-5472, 07/2018, Volume 78, Issue 13 Supplement, pp. 2068 - 2068
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, p. 841
  Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia,... 
Proteins | Genotype & phenotype | Genetic disorders | Mutation
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2015, Volume 167, Issue 6, pp. 1309 - 1314
Conradi-Huenermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, p. 996
  Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA... 
Tissue | Blood platelets | Blood vessels | Smooth muscle | Mutation | Deoxyribonucleic acid--DNA | Tumors
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2014, Volume 371, Issue 7, pp. 593 - 596
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2013, Volume 368, Issue 19, pp. 1809 - 1816
Journal Article