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PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, pp. e0125936 - e0125936
Journal Article
Journal Article
The open orthopaedics journal, ISSN 1874-3250, 2017, Volume 11, Issue 1, pp. 777 - 784
More than 36 million people are living with human immunodeficiency virus (HIV) infection worldwide and 50% of them have access to antiretroviral therapy (ART).... 
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2018, Volume 115, Issue 47, pp. 11941 - 11946
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2016, Volume 31, Issue 11, pp. 1930 - 1942
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone... 
OSTEOGENESIS IMPERFECTA | PLOD2 | COLLAGEN | LYSYL HYDROXYLASE 2 | BRUCK SYNDROME | TOMOGRAPHY | PROTEIN | CROSS-LINKING | PHENOTYPE | IDENTIFICATION | BONE-COLLAGEN | SYNDROME-OSTEOGENESIS IMPERFECTA | ENDOCRINOLOGY & METABOLISM | MUTATIONS | SKIN | Bone and Bones - pathology | Conserved Sequence - genetics | Osteogenesis Imperfecta - metabolism | Musculoskeletal Abnormalities - complications | Musculoskeletal Abnormalities - pathology | X-Ray Microtomography | Arthrogryposis - diagnostic imaging | Peptides - metabolism | Bone and Bones - diagnostic imaging | Mass Spectrometry | Lysine - metabolism | Arthrogryposis - pathology | Amino Acid Sequence | Catalytic Domain | Collagen Type I - metabolism | Hydroxylation | Larva - metabolism | Musculoskeletal Abnormalities - diagnostic imaging | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Cross-Linking Reagents - metabolism | Phenotype | Animals | Musculoskeletal Abnormalities - metabolism | Calcification, Physiologic | Zebrafish - metabolism | Arthrogryposis - metabolism | Osteogenesis Imperfecta - pathology | Notochord - pathology | Zebrafish Proteins - genetics | Bone and Bones - abnormalities | Codon, Nonsense - genetics | Evolution, Molecular | Enzymes | Dysplasia | Crosslinked polymers | Lysine | Analysis | Collagen | Abnormalities | Bones | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 289 - 294
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2016, Volume 11, Issue 1, pp. e0148155 - e0148155
Prader-Willi Syndrome (PWS), a maternally imprinted disorder and leading cause of obesity, is characterised by insatiable appetite, poor muscle development,... 
PATHWAYS | MINERAL DENSITY | TRANSLOCATION BREAKPOINT | SMALL NUCLEOLAR RNAS | MULTIDISCIPLINARY SCIENCES | SNORNA SNORD116 | RECEPTOR | MICE | BODY-COMPOSITION | DEFICIENCY | NEUROPEPTIDE-Y | Genomic Imprinting | Neurons - pathology | Sequence Deletion | Humans | Molecular Sequence Data | Male | Neuropeptide Y - genetics | Proprotein Convertases - genetics | Neuropeptide Y - metabolism | RNA, Small Nucleolar - metabolism | Gene Expression Regulation, Developmental | Base Sequence | Bone and Bones - metabolism | Prader-Willi Syndrome - genetics | Female | Neurons - metabolism | Disease Models, Animal | Bone Density | Signal Transduction | Mice, Inbred C57BL | Proprotein Convertases - metabolism | Prader-Willi Syndrome - metabolism | RNA, Small Nucleolar - genetics | Mice, Knockout | Animals | Prader-Willi Syndrome - pathology | Mice | Bone and Bones - abnormalities | Prader-Willi syndrome | Genetic susceptibility | Causes of | Physiological aspects | Bones | Genetic aspects | Research | Density | Brain | Neurosciences | Spine | Arcuate nucleus | Cognitive ability | Homeostasis | Proopiomelanocortin | mRNA | Osteoblasts | Apposition | Osteoporosis | Nucleoli | Genotype & phenotype | Biomedical materials | Bone growth | Clonal deletion | Scoliosis | Rodents | Deletion | Biocompatibility | Bone density | Bone (cortical) | Neuropeptide Y | Appetite | Medical research | Obesity | Vertebrae | Neurons | Abnormalities | Muscles | Gene expression | snoRNA | Bone mass | Ribonucleic acids | Growth hormones | Bone mineral density | Bone | Endocrinology | Osteogenesis | Bone (cancellous) | Index Medicus
Journal Article