Works matching DE "SKELETAL abnormalities"
Results: 610
Transient Neonatal Hyperparathyroidism Unfolding a Noteworthy Cause: A Series of Four Cases.
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- Journal of Clinical & Diagnostic Research, 2025, v. 19, n. 2, p. 1, doi. 10.7860/JCDR/2025/73287.20600
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- Article
Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.
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- Journal of Clinical Medicine, 2025, v. 14, n. 4, p. 1113, doi. 10.3390/jcm14041113
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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
Pathologic Diagnosis of Achondrogenesis Type 2 in a Fragmented Fetus: Case Report and Evidence-Based Differential Diagnostic Approach in the Early Midtrimester.
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- 2014
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- Publication type:
- Case Study
Fryns Anophthalmia-Plus Syndrome in an 18-Week-Old Fetus.
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- Pediatric & Developmental Pathology, 2012, v. 15, n. 1, p. 58, doi. 10.2350/10-07-0880-CR.1
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- Article
A case of cryopyrin-associated periodic fever syndrome during canakinumab administration complicated by inflammatory bowel disease.
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- Clinical Rheumatology, 2021, v. 40, n. 1, p. 393, doi. 10.1007/s10067-020-05267-1
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- Article
Bilateral arcuate foramen associated with partial defect of the posterior arch of the atlas in a medieval skeleton: case report and review of the literature. Looking backward to go forward.
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- Surgical & Radiologic Anatomy, 2011, v. 33, n. 6, p. 495, doi. 10.1007/s00276-010-0760-z
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- Article
Sprengel's deformity correction by vertical scapular osteotomy in a paediatric age group: influence of rib cage abnormalities.
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- 2018
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- Publication type:
- journal article
No positive bone healing after using platelet rich plasma in a skeletal defect. An observational prospective cohort study.
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- International Orthopaedics, 2012, v. 36, n. 10, p. 2113, doi. 10.1007/s00264-012-1603-9
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- Article
The relevance of serum vitamin D in psoriasis: a review.
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- Archives of Dermatological Research, 2017, v. 309, n. 7, p. 499, doi. 10.1007/s00403-017-1751-2
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- Article
Effects of scanning parameters reduction in dental radiographs on image quality and diagnostic performance: A randomised controlled trial.
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- Journal of Orthodontics, 2021, v. 48, n. 1, p. 5, doi. 10.1177/1465312520971641
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- Publication type:
- Article
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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- Article
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
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- Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
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- Publication type:
- 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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- Publication type:
- Article
Integrated bioinformatics analysis of potential pathway biomarkers using abnormal proteins in clubfoot.
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- PeerJ, 2020, p. 1, doi. 10.7717/peerj.8422
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- Article
Synostosis in the Cervical Vertebrae: a Case Report.
- Published in:
- 2021
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- Publication type:
- Case Study
Expression of matrix metalloproteinases during impairment and recovery of the avian growth plate.
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- Journal of Animal Science, 2009, v. 87, n. 11, p. 3544, doi. 10.2527/jas.2009-2068
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- Article
Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome): A Patient Showing Distinctive Dermoscopic Features: Case Report.
- Published in:
- 2017
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- Publication type:
- Case Study
A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.
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- Oxford Medical Case Reports, 2025, v. 2025, n. 1, p. 1, doi. 10.1093/omcr/omae169
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- Publication type:
- Article
Micromelic Pseudoachondroplasia Simulating Rickets in a 9-Year-Old Boy.
- Published in:
- 2017
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- Publication type:
- Case Study
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.
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- 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.
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- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1354, doi. 10.3390/biom13091354
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- Article
Effect of Early Peptide Diets on Zebrafish Skeletal Development.
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- 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.
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- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101330
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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
OP09.08: Assessing the clinical value of fetal MRI for non‐CNS abnormalities.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 87, doi. 10.1002/uog.24006
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- Article
VP13.16: Utility of low‐dose abdominal CT in evaluation of fetal skeletal dysplasias.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 106, doi. 10.1002/uog.22525
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- Article
EP06.05: A retrospective study on prenatal diagnosis of skeletal dysplasias in Chinese.
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- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 213, doi. 10.1002/uog.19850
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- Article
OP02.01: Prenatal ultrasound features in a case of Kabuki syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 69, doi. 10.1002/uog.19401
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- Article
EP10.12: Prenatal diagnosis of diaphanospondylodystosis (DSD): a case report.
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- 2016
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- Publication type:
- journal article
Confined placental mosaicism of double trisomies 9 and 21: discrepancy between non-invasive prenatal testing, chorionic villus sampling and postnatal confirmation.
- Published in:
- 2016
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- Publication type:
- Case Study
Fetal hemivertebra: associations and perinatal outcome.
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- Ultrasound in Obstetrics & Gynecology, 2015, v. 45, n. 4, p. 434, doi. 10.1002/uog.13401
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- Article
Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus.
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- Ultrasound in Obstetrics & Gynecology, 2014, v. 43, n. 4, p. 475, doi. 10.1002/uog.13238
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- Publication type:
- Article
P03.14: A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH.
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- Ultrasound in Obstetrics & Gynecology, 2012, v. 40, p. 182, doi. 10.1002/uog.11800
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- Article
P09.20: Femoral hypoplasia unusual facies syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 204, doi. 10.1002/uog.9744
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- Article
IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome.
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- Frontiers in Oncology, 2019, p. 1, doi. 10.3389/fonc.2019.00772
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- Article
Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2024.1439905
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- Publication type:
- Article
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1421943
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- 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
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
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
Saddleback syndrome in European sea bass Dicentrarchus labrax ( Linnaeus, 1758): anatomy, ontogeny and correlation with lateral-line, anal and pelvic fin abnormalities.
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- Journal of Fish Diseases, 2017, v. 40, n. 1, p. 83, doi. 10.1111/jfd.12494
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- Publication type:
- Article
Case studies of spinal deformities in ornamental koi, Cyprinus carpio L.
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- Journal of Fish Diseases, 2017, v. 40, n. 1, p. 65, doi. 10.1111/jfd.12496
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- Publication type:
- Article
Skeletal anomaly assessment in diploid and triploid juvenile Atlantic salmon ( Salmo salar L.) and the effect of temperature in freshwater.
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- Journal of Fish Diseases, 2016, v. 39, n. 4, p. 449, doi. 10.1111/jfd.12438
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- Publication type:
- Article
Serum osteoprotegerin measurement for early diagnosis of chronic kidney disease-mineral and bone disorder.
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- Nephrology, 2011, v. 16, n. 6, p. 588, doi. 10.1111/j.1440-1797.2011.01481.x
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- Article
Review article: Bone density in patients with chronic kidney disease stages 4-5.
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- Nephrology, 2009, v. 14, n. 4, p. 395, doi. 10.1111/j.1440-1797.2009.01159.x
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- Publication type:
- Article
Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer.
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- Case Reports in Gastrointestinal Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/685459
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- Publication type:
- Article
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation.
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- Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/8639617
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- Publication type:
- Article