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Recent developments in osteogenesis imperfectaOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentRapid phenotyping of knockout mice to identify genetic determinants of bone strengthInsights from exome sequencing for endocrine disordersGenetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaA Guide to Improving the Care of Patients with Fragility Fractures, Edition 2Actin-bundling protein plastin 3 is a regulator of ectoplasmic specialization dynamics during spermatogenesis in the rat testis.Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfectaGenetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.Understanding the pathogenesis of hip fracture in the elderly, osteoporotic theory is not reflected in the outcome of prevention programmesMBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.Plastins regulate ectoplasmic specialization via its actin bundling activity on microfilaments in the rat testisThe Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA PhenotypeMolecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaUnveiling the mysteries of the genetics of osteoporosis.(Patho)physiology of cross-sex hormone administration to transsexual people: the potential impact of male-female genetic differences.A look behind the scenes: the risk and pathogenesis of primary osteoporosis.Comparative proteomic analysis of hypertrophic chondrocytes in osteoarthritis.PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.Is toxicant-induced Sertoli cell injury in vitro a useful model to study molecular mechanisms in spermatogenesis?Alzheimer's Disease is an Important Risk Factor of Fractures: a Meta-analysis of Cohort Studies.Genetics of osteoporosis: searching for candidate genes for bone fragility.Osteocytic signalling pathways as therapeutic targets for bone fragility.Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment.Pharmacological and biological therapeutic strategies for osteogenesis imperfecta.A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration?PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patientsClinical guidelines for the prevention and treatment of osteoporosis: summary statements and recommendations from the Italian Society for Orthopaedics and Traumatology.Functional analysis of p.Ala253_Leu254insAsn mutation in PLS3 responsible for X-linked osteoporosis.Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V.The genetic implication of scoliosis in osteogenesis imperfecta: a review.Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V.Emerging targeted drug therapies in skeletal dysplasias.Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
PLS3 mutations in X-linked osteoporosis with fractures
@ast
PLS3 mutations in X-linked osteoporosis with fractures
@en
PLS3 mutations in X-linked osteoporosis with fractures
@en-gb
PLS3 mutations in X-linked osteoporosis with fractures
@nl
type
label
PLS3 mutations in X-linked osteoporosis with fractures
@ast
PLS3 mutations in X-linked osteoporosis with fractures
@en
PLS3 mutations in X-linked osteoporosis with fractures
@en-gb
PLS3 mutations in X-linked osteoporosis with fractures
@nl
prefLabel
PLS3 mutations in X-linked osteoporosis with fractures
@ast
PLS3 mutations in X-linked osteoporosis with fractures
@en
PLS3 mutations in X-linked osteoporosis with fractures
@en-gb
PLS3 mutations in X-linked osteoporosis with fractures
@nl
P2093
P50
P921
P3181
P356
P1476
PLS3 mutations in X-linked osteoporosis with fractures
@en
P2093
Alessandra Maugeri
Annemieke J M H Verkerk
Anton A Franken
Arjan J Harsevoort
Astrid D Bakker
Brunhilde Wirth
Carlo L M Marcelis
Christine E de Die-Smulders
Cor M Semeins
Dimitra Micha
P304
P3181
P356
10.1056/NEJMOA1308223
P407
P50
P577
2013-10-17T00:00:00Z