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Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 03/2018, Volume 6, Issue 2, pp. 230 - 248
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/1999, Volume 23, Issue 3, pp. 319 - 322
Journal Article
Journal of the College of Physicians and Surgeons Pakistan, ISSN 1022-386X, 07/2012, Volume 22, Issue 7, pp. 466 - 469
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2013, Volume 110, Issue 15, pp. 5852 - 5857
Journal Article
Journal of Clinical Imaging Science, ISSN 2156-7514, 2013, Volume 3, Issue 1, p. 24
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an inherited disorder characterized by congenital or early-onset flexion camptodactyly,... 
intraosseous fluid-filled herniations | no joint erosions | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | juvenile idiopathic arthritis | Arthritis | Genetic disorders | Nuclear magnetic resonance--NMR | Cysts | Biopsy | Laboratories | Inflammation | Mutation | Chromosomes
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 06/2017, Volume 102, Issue 6, pp. 2019 - 2028
Context: Recessive mutations in TMEM38B cause type XIV osteogenesis imperfecta (OI) by dysregulating intracellular calcium flux. Objectives: Clinical and bone... 
HOMEOSTASIS | MINERALIZATION DENSITY DISTRIBUTION | HISTOMORPHOMETRY | SIALOPROTEIN | ADOLESCENTS | DISEASE | ENDOCRINOLOGY & METABOLISM | BONE MINERALIZATION | GROWING CHILDREN | DELETION MUTATION | NORMATIVE DATA | Calcium - metabolism | Cell Count | Humans | Child, Preschool | Coxa Vara - etiology | Ion Channels - genetics | Male | Gene Expression Profiling | Osteoclasts - cytology | Muscle Hypotonia - etiology | Young Adult | Cancellous Bone - diagnostic imaging | Coxa Vara - physiopathology | Cell Differentiation | Osteoclasts - physiology | Child | Infant, Newborn | Echocardiography | Lumbar Vertebrae - diagnostic imaging | Osteogenesis Imperfecta - complications | Genotype | Osteogenesis Imperfecta - diagnostic imaging | Reverse Transcriptase Polymerase Chain Reaction | Phenotype | Muscle Hypotonia - physiopathology | Adolescent | Mice | Mutation | Spinal Fractures - etiology | Osteogenesis Imperfecta - genetics | Infant | Case-Control Studies | Cancellous Bone - pathology | Osteogenesis Imperfecta - physiopathology | Adult | Female | Spectrum Analysis, Raman | Osteoblasts - cytology | Severity of Illness Index | Bone Density | Heart Diseases - physiopathology | Osteoblasts - physiology | Organ Size | Microscopy, Electron | Spinal Fractures - physiopathology | Heart Diseases - etiology | Animals | Ion Channels - metabolism | Heterozygote | Heart Diseases - diagnostic imaging | Calcium | Spine | Backscattering | Differentiation (biology) | Research facilities | Bone (trabecular) | Osteoblasts | Bisphosphonates | Defects | Bone resorption | Genotype & phenotype | Bone histomorphometry | Hypotonia | Coxa | Mineralization | Biocompatibility | Bone density | Bone matrix | Heart diseases | Bone composition | Vertebrae | Calcium (intracellular) | Abnormalities | Markers | Muscles | Histology | Bone turnover | Electron microscopy | Radiography | Fractures | Osteoblastogenesis | Biopsy | Collagen | Radiographs | Osteogenesis imperfecta | Bone mineral density | Bone | Intracellular | Osteogenesis
Journal Article