Works matching DE "MULTIPLE epiphyseal dysplasia"
Results: 178
A Rare Case of Monostotic Spinal Fibrous Dysplasia Mimicking Solitary Metastatic Lesion of Thyroid Carcinoma.
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- Malaysian Journal of Medical Sciences, 2016, v. 23, n. 1, p. 82
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- Publication type:
- Article
Musculoskeletal development, maintenance and regeneration: Part two.
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- Developmental Dynamics, 2021, v. 250, n. 3, p. 300, doi. 10.1002/dvdy.314
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- Publication type:
- Article
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.
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- Developmental Dynamics, 2021, v. 250, n. 3, p. 345, doi. 10.1002/dvdy.221
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- Article
A comparative study of clinical effect of total knee arthroplasty in the treatment of primary osteoarthritis and osteoarthritis of Kashin-Beck disease.
- Published in:
- 2020
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- Publication type:
- journal article
Shoulder arthroplasty in patients with osteo-chondrodysplasias.
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- 2017
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- Publication type:
- journal article
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
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- Human Genetics, 2018, v. 137, n. 11/12, p. 905, doi. 10.1007/s00439-018-1950-8
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- Publication type:
- Article
RECESSIVE MULTIPLE EPIPHYSEAL DYSPLASIA: A CASE REPORT.
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- Khyber Medical University Journal, 2019, v. 11, n. 2, p. 104, doi. 10.35845/kmuj.2019.18338
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- Article
Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.
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- 2021
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- Publication type:
- Case Study
Binder syndrome: a phenotype rather than a definitive diagnosis?
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- 2019
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- Publication type:
- Case Study
Physical Activity, Exercise, and Sports in Individuals with Skeletal Dysplasia: What Is Known about Their Benefits?
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- Sustainability (2071-1050), 2022, v. 14, n. 8, p. N.PAG, doi. 10.3390/su14084487
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- Article
Dental clearance unsuccesful: cleidocranial dysplasia diagnosed at a relief of pain clinic.
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- 2016
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- journal article
A rare, late presentation of pseudo-Madelung deformity.
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- 2021
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- Publication type:
- Case Study
Cantú syndrome as a rare cause of pericardial effusion in a young woman.
- Published in:
- 2019
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- Publication type:
- Case Study
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.
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- 2017
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- Publication type:
- journal article
XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.
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- PLoS Genetics, 2019, v. 15, n. 7, p. 1, doi. 10.1371/journal.pgen.1008215
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- Publication type:
- Article
Multiple Metastasis-Like Bone Lesions in Scintigraphic Imaging.
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- Journal of Biomedicine & Biotechnology, 2012, v. 2012, p. 1, doi. 10.1155/2012/957364
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- Publication type:
- Article
Cartilage lesions of the glenohumeral joint: diagnostic effectiveness of multidetector spiral CT arthrography and comparison with arthroscopy.
- Published in:
- 2007
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- Publication type:
- journal article
X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity.
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- 1996
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- journal article
X-linked dominant chondrodysplasia punctata (Happle syndrome) with uncommon symmetrical shortening of the tubular bones.
- Published in:
- 1995
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- Publication type:
- journal article
Spinal Cord Stimulation Improves Functional Outcomes in Children With Complex Regional Pain Syndrome: Case Presentation and Review of the Literature.
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- Pain Practice, 2020, v. 20, n. 6, p. 647, doi. 10.1111/papr.12882
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- Publication type:
- Article
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1630
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- Article
Metaphyseal chondrodysplasia.
- Published in:
- 1977
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- journal article
Cartilage hair hypoplasia.
- Published in:
- 1977
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- Publication type:
- journal article
An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy.
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- Annals of Indian Academy of Neurology, 2021, v. 24, n. 5, p. 759, doi. 10.4103/aian.AIAN_1108_20
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- Publication type:
- Article
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.
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- 2009
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- Publication type:
- journal article
Chondrodysplasia Punctata with Severe Airway Stenosis.
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- Indian Journal of Critical Care Medicine, 2018, v. 22, n. 7, p. 552, doi. 10.4103/ijccm.IJCCM_105_18
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- Article
Anterior mediastinal tracheostomy with a median mandibular splitting approach in a Larsen syndrome patient with posterior cervical arthrodesis.
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- 2015
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- journal article
Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.
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- 2017
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- Publication type:
- journal article
Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.
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- Genes, 2024, v. 15, n. 11, p. 1490, doi. 10.3390/genes15111490
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- Publication type:
- Article
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
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- Genes, 2022, v. 13, n. 9, p. 1512, doi. 10.3390/genes13091512
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- Publication type:
- Article
SLC26A2 -Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature.
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- Genes, 2021, v. 12, n. 5, p. 714, doi. 10.3390/genes12050714
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- Publication type:
- Article
Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.
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- 2017
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- Publication type:
- journal article
Adrenal Hipoplazi ve İskelet Displazisi Birlikteliği: İMAGe Sendromu.
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- Journal of Current Pediatrics / Guncel Pediatri, 2018, v. 16, n. 3, p. 134, doi. 10.4274/jcp.2018.0050
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- Publication type:
- Article
Trikorinofalangeal sendromlu bir olgu.
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- Archives of the Turkish Dermatology & Venerology / Turkderm, 2014, v. 48, n. 3, p. 156, doi. 10.4274/turkderm.71363
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- Publication type:
- Article
Emopamil Binding Protein Mutation in Conradi‑Hünermann‑Happle Syndrome Representing Plaque‑Type Psoriasis.
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- Indian Journal of Dermatology, 2015, v. 60, n. 2, p. 1, doi. 10.4103/0019-5154.152570
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- Publication type:
- Article
Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics.
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- 2015
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- Publication type:
- journal article
A guide to the recognition of skeletal disorders in the fetus.
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- 2006
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- Publication type:
- journal article
Kniest dysplasia: MR correlation of histologic and radiographic peculiarities.
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- 2005
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- Publication type:
- journal article
Recessive omodysplasia: five new cases and review of the literature.
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- 2004
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- journal article
Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type.
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- 2003
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- journal article
Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.
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- 2003
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- Publication type:
- journal article
Progressive Pseudorheumatoid Condrodysplasia, an Unusual Cause of Joint Swelling and Stiffness.
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- Journal of Pediatric Research, 2018, v. 5, n. 2, p. 98, doi. 10.4274/jpr.19970
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- Publication type:
- Article
Progressive Pseudorheumatoid Dysplasia—Radiographic Evolution Over Twenty Years.
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- Arthritis & Rheumatology, 2021, v. 73, n. 11, p. 2051, doi. 10.1002/art.41815
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- Publication type:
- Article
Brief Report: Genome-Wide Association Study Identifies ITPR2 as a Susceptibility Gene for Kashin-Beck Disease in Han Chinese.
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- Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 176, doi. 10.1002/art.38898
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- Publication type:
- Article
A172: Metaphyseal Chondrodysplasia, Ectodermal Dysplasia, Short Stature, Hypergammaglobulinemia, and Spontaneous Inflammation Without Infections in an Extended Family Due to Mutation in NFKB1A.
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- Arthritis & Rheumatology, 2014, v. 66, p. S224, doi. 10.1002/art.38598
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- Publication type:
- Article
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/861752
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- Publication type:
- Article
Sequence variants in <italic>GDF5</italic> and <italic>TRPS1</italic> underlie brachydactyly and tricho‐rhino‐phalangeal syndrome type III.
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- Pediatrics International, 2018, v. 60, n. 3, p. 304, doi. 10.1111/ped.13473
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- Publication type:
- Article
Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.
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- Pediatrics International, 2013, v. 55, n. 6, p. e162, doi. 10.1111/ped.12215
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- Publication type:
- Article
Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis.
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- Pediatrics International, 2013, v. 55, n. 5, p. 651, doi. 10.1111/ped.12091
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- Publication type:
- Article
Clinical spectrum of cleidocranial dysplasia in a family with twins.
- Published in:
- Pediatrics International, 2013, v. 55, n. 3, p. 392, doi. 10.1111/ped.12043
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- Publication type:
- Article