Works matching DE "SKELETAL abnormalities"
Results: 617
KBG Syndrome: Clinical Features and Specific Dental Findings.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Genetic Disruption of Anoctamin 5 in Mice Replicates Human Gnathodiaphyseal Dysplasia (GDD).
- Published in:
- 2019
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- Publication type:
- journal article
A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.
- Published in:
- 2018
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- Publication type:
- journal article
Bone Marrow Microenvironment as a Regulator and Therapeutic Target for Prostate Cancer Bone Metastasis.
- Published in:
- Calcified Tissue International, 2018, v. 102, n. 2, p. 152, doi. 10.1007/s00223-017-0350-8
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- Publication type:
- Article
Prevalence and Pattern of Radiographic Intervertebral Disc Degeneration in Vietnamese: A Population-Based Study.
- Published in:
- Calcified Tissue International, 2015, v. 96, n. 6, p. 510, doi. 10.1007/s00223-015-9986-4
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- Publication type:
- Article
Sprengel's deformity correction by vertical scapular osteotomy in a paediatric age group: influence of rib cage abnormalities.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation.
- Published in:
- Türkiye Klinikleri Journal of Case Reports, 2020, v. 28, n. 4, p. 288, doi. 10.5336/caserep.2020-75862
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- Publication type:
- Article
EFFECT OF FACIAL ORTHOPEDIC TREATMENT IN CLASS III PATIENTS AT DIFFERENT AGE.
- Published in:
- Knowledge: International Journal, 2023, v. 59, n. 4, p. 335
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- Publication type:
- Article
The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes - a literature review and three case reports.
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- South European Journal of Orthodontics & Dentofacial Research, 2016, v. 3, n. 1, p. 24, doi. 10.5937/sejodr3-1269
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- Publication type:
- Article
Fully automatic segmentation of phalanges from hand radiographs for bone age assessment.
- Published in:
- Computer Methods in Biomechanics & Biomedical Engineering: Imaging & Visualisation, 2019, v. 7, n. 1, p. 59, doi. 10.1080/21681163.2017.1416491
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- Publication type:
- Article
Identification of a New Mutation in RSK2 , the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1105, doi. 10.3390/brainsci11081105
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- Publication type:
- Article
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I.
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- Brain Sciences (2076-3425), 2018, v. 8, n. 7, p. 136, doi. 10.3390/brainsci8070136
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- Publication type:
- Article
Molecular Developmental Biology of Fibrodysplasia Ossificans Progressiva: Measuring the Giant by Its Toe.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 8, p. 1009, doi. 10.3390/biom14081009
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- Publication type:
- Article
The Effect of SERCA Activation on Functional Characteristics and Signaling of Rat Soleus Muscle upon 7 Days of Unloading.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1354, doi. 10.3390/biom13091354
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- Publication type:
- Article
Effect of Early Peptide Diets on Zebrafish Skeletal Development.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 659, doi. 10.3390/biom13040659
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- Publication type:
- Article
Fibrillin-1 Regulates Arteriole Integrity in the Retina.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101330
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- Publication type:
- Article
MULTIDISCIPLINARY APPROACH TO DIAGNOSIS AND MANAGEMENT OF MUCOPOLYSACCHARIDOSIS TYPE VI: A CASE STUDY.
- Published in:
- Research & Science Today, 2023, v. 26, n. 2, p. 153, doi. 10.38173/rst.2023.26.2.15:153-158
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- Publication type:
- Article
A Review of the Application of Natural and Synthetic Scaffolds in Bone Regeneration.
- Published in:
- Journal of Functional Biomaterials, 2023, v. 14, n. 5, p. 286, doi. 10.3390/jfb14050286
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- Publication type:
- Article
Intramedullary Skeletal Kinetic Distractor를 이용한 하지 신연 골형성술에서의 기계고장.
- Published in:
- Journal of the Korean Orthopaedic Association / Daehan Jeonghyeong Oe'gwa Haghoeji, 2014, v. 49, n. 2, p. 172, doi. 10.4055/jkoa.2014.49.2.172
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- Publication type:
- Article
Genetic and Pharmacological Targeting of Transcriptional Repression in Resistance to Thyroid Hormone Alpha.
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- Thyroid, 2019, v. 29, n. 5, p. 726, doi. 10.1089/thy.2018.0399
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- Publication type:
- Article
A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-28295-8
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- Publication type:
- Article
The Roles of Acidosis in Osteoclast Biology.
- Published in:
- Frontiers in Physiology, 2016, p. 1, doi. 10.3389/fphys.2016.00222
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- Publication type:
- Article
3-M Syndrome: A Local Case Report.
- Published in:
- American Journal of Case Reports, 2019, p. 36, doi. 10.12659/AJCR.912736
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- Publication type:
- Article
Sex-based differences in growth-related IGF1 signaling in response to PAPP-A2 deficiency: comparative effects of rhGH, rhIGF1 and rhPAPP-A2 treatments.
- Published in:
- Biology of Sex Differences, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13293-024-00603-5
- By:
- Publication type:
- Article
Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 1, p. 28, doi. 10.1159/000530414
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- Publication type:
- Article
Skeletal Morbidity in Children and Adolescents during and following Cancer Therapy.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 2, p. 137, doi. 10.1159/000494809
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- Publication type:
- Article
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 5, p. 361, doi. 10.1159/000380908
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- Publication type:
- Article
A 3D quantitative method for analyzing bone mineral densities: a case study on skeletal deformities in the gilthead sea bream, Sparus aurata (Linnaeus, 1758).
- Published in:
- Belgian Journal of Zoology, 2018, v. 148, n. 2, p. 149, doi. 10.26496/bjz.2018.24
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- Publication type:
- Article
LRP5, Bone Mass Polymorphisms and Skeletal Disorders.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1846, doi. 10.3390/genes14101846
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- Publication type:
- Article
Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101880
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- Publication type:
- Article
Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 123, doi. 10.3390/genes13010123
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- Publication type:
- Article
MED12 -Related (Neuro)Developmental Disorders: A Question of Causality.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 663, doi. 10.3390/genes12050663
- By:
- Publication type:
- Article
The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 74, doi. 10.3390/genes12010074
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- Publication type:
- Article
A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours.
- Published in:
- Acta Dermato-Venereologica, 2021, v. 101, n. 4, p. 1, doi. 10.2340/00015555-3797
- By:
- Publication type:
- Article
Disseminated Skeletal Angiomatosis Initially Misdiagnosed As Metastatic Tumor: A Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian.
- Published in:
- Case Reports in Medicine, 2018, p. 1, doi. 10.1155/2018/6783957
- By:
- Publication type:
- Article
X-ray Bone Image Processing Based on Improved Densenet.
- Published in:
- International Journal of Pattern Recognition & Artificial Intelligence, 2024, v. 38, n. 13, p. 1, doi. 10.1142/S0218001423570057
- By:
- Publication type:
- Article
Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2017, v. 18, n. 3, p. 393, doi. 10.1016/j.ejmhg.2014.04.003
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- Publication type:
- Article
Y chromosome of the inbred mouse KK/Ta strain is associated with reduced body size in Y-consomic strains.
- Published in:
- BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-64
- By:
- Publication type:
- Article
The Golden Ratio Optimizes Cardiomelic Form and Function.
- Published in:
- Iranian Journal of Medical Hypotheses & Ideas, 2009, v. 3, p. 1
- By:
- Publication type:
- Article
The impact of skeletal muscle abnormalities on tolerance to adjuvant chemotherapy and radiation and outcome in patients with endometrial cancer.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Incidence of Skeletal diseases affecting Long bones in Growing dogs - A Radiographic survey.
- Published in:
- Intas Polivet, 2012, v. 13, n. 2, p. 337
- By:
- Publication type:
- Article
Shwachman Diamond Syndrome: an emergency challenge.
- Published in:
- Signa Vitae, 2007, v. 2, n. 2, p. 10
- By:
- Publication type:
- Article
Heterozygous pathogenic STT3A variation leads to dominant congenital glycosylation disorders and functional validation in zebrafish.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03557-y
- By:
- Publication type:
- Article
Highly reproducible skeletal deformities induced by administration of β-aminopropionitrile to developing chick embryos.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Oberkieferkompression und skelettale Klasse III.
- Published in:
- Kieferorthopädie: die Zeitschrift für die Praxis, 2023, v. 37, n. 4, p. 355
- By:
- Publication type:
- Article
The biomechanical disadvantage of dysplastic hips.
- Published in:
- Journal of Orthopaedic Research, 2022, v. 40, n. 6, p. 1387, doi. 10.1002/jor.25165
- By:
- Publication type:
- Article
Abnormal fetal muscle forces result in defects in spinal curvature and alterations in vertebral segmentation and shape.
- Published in:
- Journal of Orthopaedic Research, 2017, v. 35, n. 10, p. 2135, doi. 10.1002/jor.23518
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- Publication type:
- Article