Works matching Skeletal abnormalities
Results: 2450
Clinical and ocular abnormalities in DEGCAGS syndrome—Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities.
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- 2024
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- Publication type:
- Case Study
Isolation of Mycoplasma iowae in turkey flocks with skeletal abnormalities: a retrospective study.
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- Avian Pathology, 2021, v. 50, n. 3, p. 277, doi. 10.1080/03079457.2021.1914816
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- Article
Approach to Investigating Congenital Skeletal Abnormalities in Livestock.
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- Veterinary Pathology, 2015, v. 52, n. 5, p. 851, doi. 10.1177/0300985815579999
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- Article
Assessment of pharyngeal airway space in patients with different maxillofacial skeletal abnormalities using cone beam computed tomography.
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- Romanian Journal of Stomatology / Revista Romana de Stomatologie, 2024, v. 70, n. 1, p. 79, doi. 10.37897/RJS.2024.1.11
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- Article
SKELETAL ABNORMALITIES IN THE URBAN POPULATION OF IAŞI (IAŞI COUNTY, ROMANIA): PALEOPATHOLOGICAL DATA ON THE NECROPOLIS DISCOVERED IN THE PRINCELY COURT, 17<sup>TH</sup> CENTURY.
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- Annuaire Roumain d'Anthropologie, 2015, v. 52, p. 3
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- Article
Extended genetic testing in fetuses with sonographic skeletal system abnormalities.
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- 2022
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- Publication type:
- journal article
Prevalence and typology of skeletal abnormalities in fishes of the Eastern Mediterranean.
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- Journal of Fish Diseases, 2024, v. 47, n. 10, p. 1, doi. 10.1111/jfd.13992
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- Article
Inhibition of xanthine oxidase in the acute phase of myocardial infarction prevents skeletal muscle abnormalities and exercise intolerance.
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- Cardiovascular Research, 2021, v. 117, n. 3, p. 805, doi. 10.1093/cvr/cvaa127
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- Article
Effect of two temperatures on yield and increase in cranial skeletal abnormalities during early development of palm ruff, Seriolella violacea ( Guichenot 1848).
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- Aquaculture Research, 2017, v. 48, n. 1, p. 298, doi. 10.1111/are.12882
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- Article
Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system.
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- Molecular Genetics & Genomics, 2022, v. 297, n. 4, p. 1017, doi. 10.1007/s00438-022-01899-x
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- Article
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.
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- Clinical Genetics, 2020, v. 97, n. 4, p. 644, doi. 10.1111/cge.13690
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- Article
Road Proximity Increases Risk of Skeletal Abnormalities in Wood Frogs from National Wildlife Refuges in Alaska.
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- Environmental Health Perspectives, 2008, v. 116, n. 8, p. 1009, doi. 10.1289/ehp.10963
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- Article
Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 825, doi. 10.1002/acn3.51327
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- Publication type:
- Article
The role of starter diets in the development of skeletal abnormalities in zebrafish Danio rerio (Hamilton, 1822).
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- Journal of Fish Diseases, 2023, v. 46, n. 6, p. 697, doi. 10.1111/jfd.13779
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- Publication type:
- Article
Histopathological abnormalities of the skeletal muscle tissue from a patient affected by a rare genetic neuromyopathy.
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- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2022, v. 126, p. 89
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- Publication type:
- Article
PREVALENCE OF DEVELOPMENTAL SKELETAL ABNORMALITIES IN THE DOG IN BULGARIA: A 6-YEAR SURVEY.
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- Bulgarian Journal of Veterinary Medicine, 2014, v. 17, n. 3, p. 217
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- Article
The impact of skeletal muscle abnormalities on tolerance to adjuvant chemotherapy and radiation and outcome in patients with endometrial cancer.
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- 2020
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- Publication type:
- journal article
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
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- PLoS Genetics, 2019, v. 15, n. 4, p. 1, doi. 10.1371/journal.pgen.1008088
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- Publication type:
- Article
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.
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- 2022
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- Publication type:
- Case Study
Skeletal abnormalities are common features in Aymé‐Gripp syndrome.
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- Clinical Genetics, 2020, v. 97, n. 2, p. 362, doi. 10.1111/cge.13651
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- Article
Two Cases of Scimitar Syndrome Associated with Multiple Congenital Skeletal Anomalies and Lacking Abnormalities by Genomic Microarray Analysis.
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- 2014
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- Publication type:
- Case Study
The First Turkish Family with Skeletal Abnormality and Novel NPR2 Gene Mutation.
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- 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
Skeletal Abnormalities and VDR1 Gene Polymorphisms in Mucopolysaccharidosis Patients.
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- Pharmacogenomics & Personalized Medicine, 2021, v. 14, p. 349, doi. 10.2147/PGPM.S295241
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- Publication type:
- Article
Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 10, p. 2070, doi. 10.1002/jbmr.4110
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- Publication type:
- Article
Skeletal abnormalities and extra-skeletal ossification in mice with restricted Gsα deletion caused by a renin promoter-Cre transgene.
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- Cell & Tissue Research, 2007, v. 330, n. 3, p. 487, doi. 10.1007/s00441-007-0491-6
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- Publication type:
- Article
Skeletal abnormalities caused by a Connexin43<sub>R239Q</sub> mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.
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- Bone Research, 2025, v. 13, n. 1, p. 1, doi. 10.1038/s41413-024-00383-z
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- Article
Skeletal phenotypes in secreted frizzled-related protein 4 gene knockout mice mimic skeletal architectural abnormalities in subjects with Pyle's disease from SFRP4 mutations.
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- Bone Research, 2023, v. 11, n. 1, p. 1, doi. 10.1038/s41413-022-00242-9
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- Article
Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.
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- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0148155
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- Article
Spag17 Deficiency Results in Skeletal Malformations and Bone Abnormalities.
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- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0125936
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- Article
X monosomy in a British shorthair cat with skeletal abnormalities and behavioral problems.
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- Animal Genetics, 2023, v. 54, n. 5, p. 655, doi. 10.1111/age.13343
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- Publication type:
- Article
Mice Lacking the Matrilin Family of Extracellular Matrix Proteins Develop Mild Skeletal Abnormalities and Are Susceptible to Age-Associated Osteoarthritis.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020666
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- Article
Rare skeletal abnormalities in Rothmund-Thomson syndrome: a case report.
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- International Journal of Dermatology, 2016, v. 55, n. 4, p. 460, doi. 10.1111/ijd.12723
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- Article
Erratum: Pandemic of Vitamin D Deficiency: Cardiometabolic Concern or Skeletal Biochemical Abnormality?
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- Indian Journal of Endocrinology & Metabolism, 2019, v. 23, n. 3, p. 386, doi. 10.4103/2230-8210.263698
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- Article
Pandemic of Vitamin D deficiency: Cardiometabolic concern or skeletal biochemical abnormality?
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- Indian Journal of Endocrinology & Metabolism, 2019, v. 23, n. 2, p. 215, doi. 10.4103/ijem.IJEM_59_19
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- Article
Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.
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- 2013
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- Publication type:
- journal article
Response to Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy".
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- 2019
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- Publication type:
- journal article
Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy".
- Published in:
- 2019
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- Publication type:
- journal article
Multiple cutaneous and skeletal abnormalities in an 8‐month‐old boy.
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- Pediatric Dermatology, 2020, v. 37, n. 1, p. e7, doi. 10.1111/pde.14027
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- Publication type:
- Article
Editorial: Perspectives in avian skeletal systems and skeletal abnormalities.
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- Frontiers in Physiology, 2023, p. 1, doi. 10.3389/fphys.2023.1229943
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- Publication type:
- Article
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2308
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- Publication type:
- Article
Assessment of Immunological, Skeletal, and Thyroid Function Abnormalities in Paediatric Morphoea.
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- Indian Journal of Dermatology, 2025, v. 70, n. 1, p. 50, doi. 10.4103/ijd.ijd_1081_23
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- Publication type:
- Article
Corrigendum: Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
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- 2022
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- Publication type:
- Correction Notice
Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.820001
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- Publication type:
- Article
Status and advances in the mechanism research on dento-maxillofacial skeletal abnormalities.
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- Journal of Shanghai Jiaotong University (Medical Science), 2024, v. 44, n. 6, p. 663, doi. 10.3969/j.issn.1674-8115.2024.06.001
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- Publication type:
- Article
Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2019, v. 25, n. 1, p. 41, doi. 10.5114/pedm.2019.84708
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- Publication type:
- Article
Sensitive stages during embryonic development of wolffish, Anarhichas lupus L. determining the final numbers of rays in unpaired fins and skeletal abnormalities.
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- ICES Journal of Marine Science / Journal du Conseil, 1996, v. 53, n. 4, p. 731, doi. 10.1006/jmsc.1996.0092
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- Article
Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome.
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- Clinical Medicine Insights: Arthritis & Musculoskeletal Disorders, 2013, n. 6, p. 1, doi. 10.4137/CMAMD.S10279
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- Article
Balancing between Artemia and microdiet usage for normal skeletal development in zebrafish (Danio rerio).
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- Journal of Fish Diseases, 2021, v. 44, n. 11, p. 1689, doi. 10.1111/jfd.13487
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- Publication type:
- Article
Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV).
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- Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1350, doi. 10.3390/diagnostics11081350
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- Article
Poor bone health in Duchenne muscular dystrophy: a multifactorial problem beyond corticosteroids and loss of ambulation.
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- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1398050
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- Publication type:
- Article