Works matching DE "CONGENITAL disorders"
Results: 5000
Case report: persistent bilateral complete sciatic artery associated with aneurysmal degeneration.
- Published in:
- Jornal Vascular Brasileiro, 2024, v. 23, p. 1, doi. 10.1590/1677-5449.202301512
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- Publication type:
- Article
Rare clinical insight: esophageal atresia discovered in an adult.
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- Pan African Medical Journal, 2024, v. 48, p. 1, doi. 10.11604/pamj.2024.48.72.43959
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- Publication type:
- Article
Aplasia cutis congenita of the trunk in a newborn: a rare case report.
- Published in:
- 2024
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- Publication type:
- Case Study
Management of Malignant Glaucoma in a Pseudophakic Silicon Oil-Filled Eye: A Case Report.
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- Pakistan Journal of Ophthalmology, 2025, v. 41, n. 1, p. 92, doi. 10.36351/pjo.v41i1.1815
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- Publication type:
- Article
Spetzler-Martin grade I and II cerebral arteriovenous malformations: a propensity-score matched analysis of resection and stereotactic radiosurgery in adult patients.
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- Neurosurgical Review, 2025, v. 48, n. 1, p. 1, doi. 10.1007/s10143-025-03431-2
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- Publication type:
- Article
Predictive Factors for Hearing Loss in Congenital Cytomegalovirus Infection.
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- Audiology Research, 2025, v. 15, n. 1, p. 2, doi. 10.3390/audiolres15010002
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- Publication type:
- Article
The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG).
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- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2025, v. 50, n. 1, p. 24, doi. 10.1515/tjb-2024-0011
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- Publication type:
- Article
Effective Immune Protection of Mice from Murine Cytomegalovirus Infection by Oral Salmonella -Based Vaccine Expressing Viral M78 Antigen.
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- Vaccines, 2025, v. 13, n. 2, p. 137, doi. 10.3390/vaccines13020137
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- Publication type:
- Article
Effective Immune Protection of Mice from Murine Cytomegalovirus Infection by Oral Salmonella -Based Vaccine Expressing Viral M78 Antigen.
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- Vaccines, 2025, v. 13, n. 2, p. 137, doi. 10.3390/vaccines13020137
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- Publication type:
- Article
Understanding Host–Pathogen Interactions in Congenital Chagas Disease Through Transcriptomic Approaches.
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- Pathogens, 2025, v. 14, n. 2, p. 106, doi. 10.3390/pathogens14020106
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- Publication type:
- Article
Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1471, doi. 10.3390/ijms26041471
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- Publication type:
- Article
Seltene osteologische Erkrankungen in der rheumatologischen Sprechstunde: Hypophosphatasie und Phosphatverlustsyndrome.
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- Zeitschrift für Rheumatologie, 2025, v. 84, n. 2, p. 128, doi. 10.1007/s00393-025-01616-0
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- Publication type:
- Article
Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03602-w
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- Publication type:
- Article
Exploring Dysphagia in Congenital Diaphragmatic Hernia: A Retrospective Analysis.
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- Pediatric Reports, 2025, v. 17, n. 1, p. 3, doi. 10.3390/pediatric17010003
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- Publication type:
- Article
The Angiogenic Markers PlGF and sFlt-1 in Cytomegalovirus Infection During Pregnancy: Insights from a Clinical Case.
- Published in:
- 2025
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- Publication type:
- Case Study
Apertura del primer espacio en pacientes con artrogriposis múltiple congénita y pulgar aducto con técnica de colgajo dorsorradial del índice.
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- Acta Ortopédica Mexicana, 2014, v. 28, n. 1, p. 23
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- Publication type:
- Article
Exostosis múltiple hereditaria. Reporte de un caso y diagnóstico diferencial de las encondromatosis.
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- Acta Ortopédica Mexicana, 2012, v. 26, n. 6, p. 388
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- Publication type:
- Article
Thyroglossal Duct Cyst: Abbreviated Review and Case Report.
- Published in:
- 2017
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- Publication type:
- journal article
Use of a Resin-Bonded Bridge to Replace a Congenitally Missing Lateral Incisor: Treatment of "Intrusion" of Teeth.
- Published in:
- 2016
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- Publication type:
- journal article
The UFM1 conjugation system in mammalian development.
- Published in:
- Developmental Dynamics, 2023, v. 252, n. 7, p. 976, doi. 10.1002/dvdy.586
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- Publication type:
- Article
Evolution of inwardly rectifying potassium channels and their gene expression in zebrafish embryos.
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- Developmental Dynamics, 2022, v. 251, n. 4, p. 687, doi. 10.1002/dvdy.425
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- Publication type:
- Article
Phylogenetic and developmental analyses indicate complex functions of calcium‐activated potassium channels in zebrafish embryonic development.
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- Developmental Dynamics, 2021, v. 250, n. 10, p. 1477, doi. 10.1002/dvdy.329
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- Publication type:
- Article
TRPM6 and TRPM7: Novel players in cell intercalation during vertebrate embryonic development.
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- Developmental Dynamics, 2020, v. 249, n. 8, p. 912, doi. 10.1002/dvdy.182
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- Publication type:
- Article
Frizzled 4 regulates ventral blood vessel remodeling in the zebrafish retina.
- Published in:
- Developmental Dynamics, 2019, v. 248, n. 12, p. 1243, doi. 10.1002/dvdy.117
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- Publication type:
- Article
Screening of renal anomalies in first-degree relatives of children diagnosed with non-syndromic congenital anomalies of kidney and urinary tract.
- Published in:
- Clinical & Experimental Nephrology, 2021, v. 25, n. 2, p. 184, doi. 10.1007/s10157-020-01977-7
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- Publication type:
- Article
Activation of AQP2 water channels without vasopressin: therapeutic strategies for congenital nephrogenic diabetes insipidus.
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- Clinical & Experimental Nephrology, 2018, v. 22, n. 3, p. 501, doi. 10.1007/s10157-018-1544-8
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- Publication type:
- Article
Long-term outcome of congenital nephrotic syndrome after kidney transplantation in Japan.
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- Clinical & Experimental Nephrology, 2018, v. 22, n. 3, p. 719, doi. 10.1007/s10157-017-1508-4
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- Publication type:
- Article
Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes.
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- Pediatric & Developmental Pathology, 2016, v. 19, n. 3, p. 183, doi. 10.2350/14-05-1483-PB.1
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- Publication type:
- Article
Pathologic Diagnosis of Achondrogenesis Type 2 in a Fragmented Fetus: Case Report and Evidence-Based Differential Diagnostic Approach in the Early Midtrimester.
- Published in:
- 2014
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- Publication type:
- Case Study
Clinicopathologic Features of an Infant with Generalized Congenital Epithelioid Blue Nevi.
- Published in:
- 2013
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- Publication type:
- Case Study
Congenital Langerhans Cell Histiocytosis with Placental Involvement.
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- Pediatric & Developmental Pathology, 2013, v. 16, n. 3, p. 224, doi. 10.2350/12-11-1277-CR.1
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- Publication type:
- Article
Congenital absence of the portal vein in a patient with multiple vascular anomalies.
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- Surgical & Radiologic Anatomy, 2013, v. 35, n. 6, p. 529, doi. 10.1007/s00276-012-1059-z
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- Publication type:
- Article
Acetylcholinesterase staining for the pathological diagnosis of Hirschsprung's disease.
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- Surgery Today, 2021, v. 51, n. 2, p. 181, doi. 10.1007/s00595-020-02055-x
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- Publication type:
- Article
Individualized treatment of pediatric inguinal hernia reduces adolescent recurrence rate: an analysis of 3006 cases.
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- Surgery Today, 2020, v. 50, n. 5, p. 499, doi. 10.1007/s00595-019-01940-4
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- Publication type:
- Article
Cross-sectional analysis and trend of vertebral and associated anomalies in Chinese congenital scoliosis population: a retrospective study of one thousand, two hundred and eighty nine surgical cases from 2010 to 2019.
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- International Orthopaedics, 2021, v. 45, n. 8, p. 2049, doi. 10.1007/s00264-021-05061-x
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- Publication type:
- Article
Surgical management of the congenital dislocation of the knee and hip in children presented after six months of age.
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- International Orthopaedics, 2020, v. 44, n. 12, p. 2635, doi. 10.1007/s00264-020-04759-8
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- Publication type:
- Article
Ponseti method for late presentation of clubfoot.
- Published in:
- 2014
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- Publication type:
- Letter
Development of new NGLY1 assay systems – toward developing an early screening method for NGLY1 deficiency.
- Published in:
- Glycobiology, 2024, v. 34, n. 11, p. 1, doi. 10.1093/glycob/cwae067
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- Publication type:
- Article
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies.
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- Glycobiology, 2022, v. 32, n. 2, p. 84, doi. 10.1093/glycob/cwab087
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- Publication type:
- Article
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.
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- Glycobiology, 2020, v. 30, n. 2, p. 95, doi. 10.1093/glycob/cwz079
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- Publication type:
- Article
Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel activity assay.
- Published in:
- Glycobiology, 2019, v. 29, n. 6, p. 490, doi. 10.1093/glycob/cwz016
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- Publication type:
- Article
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.
- Published in:
- Glycobiology, 2019, v. 29, n. 3, p. 229, doi. 10.1093/glycob/cwy112
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- Publication type:
- Article
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
- Published in:
- Glycobiology, 2015, v. 25, n. 8, p. 836, doi. 10.1093/glycob/cwv024
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- Publication type:
- Article
Investigation of the protective properties of glycosylphosphatidylinositol-based vaccine candidates in a Toxoplasma gondii mouse challenge model.
- Published in:
- Glycobiology, 2015, v. 25, n. 9, p. 984, doi. 10.1093/glycob/cwv040
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- Publication type:
- Article
The Effect of Cynometra cauliflora Linn. Fruit Extract-Induced Congenital Anomalies on Chick Embryos.
- Published in:
- Trends in Sciences, 2024, v. 21, n. 4, p. 1, doi. 10.48048/tis.2024.7454
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- Publication type:
- Article
Feeding practices and weight status of children with congenital Zika syndrome: A longitudinal study in Brazil.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2024, v. 79, n. 3, p. 679, doi. 10.1002/jpn3.12304
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- Publication type:
- Article
Pediatric Crohn Disease and Multisystem Inflammatory Syndrome in Children (MIS-C) and COVID-19 Treated With Infliximab.
- Published in:
- 2020
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- Publication type:
- journal article
Multiple Congenital Esophageal Stenosis: In a 14-Month-Old Girl.
- Published in:
- Haydarpasa Numune Medical Journal, 2022, v. 62, n. 2, p. 235, doi. 10.14744/hnhj.2022.93357
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- Publication type:
- Article
Update: Interim Guidance for the Diagnosis, Evaluation, and Management of Infants with Possible Congenital Zika Virus Infection - United States, October 2017.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Prevalence and Clinical Attributes of Congenital Microcephaly - New York, 2013-2015.
- Published in:
- 2017
- By:
- Publication type:
- journal article