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A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.
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- BMC Pulmonary Medicine, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12890-024-03164-w
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- Article
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
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- Digestive Diseases & Sciences, 2024, v. 69, n. 6, p. 2109, doi. 10.1007/s10620-024-08395-9
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- Article
Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report.
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- Annals of Hematology, 2024, v. 103, n. 5, p. 1765, doi. 10.1007/s00277-024-05710-2
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- Article
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-58452-6
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- Article
A correlation study between prostate necrosis rate calculated by 3D Slicer software and clinical efficacy of prostatic artery embolization, along with an analysis of predictors of clinical success after prostatic artery embolization.
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- Abdominal Radiology, 2024, v. 49, n. 3, p. 927, doi. 10.1007/s00261-023-04131-5
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- Article
Clinical and imaging features of six Han patients with SAPHO syndrome.
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- Acta Radiologica, 2024, v. 65, n. 2, p. 211, doi. 10.1177/02841851221142783
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- Article
Pharmarcomechanical thrombectomy combined with transluminal balloon angioplasty for treating transplant renal vein thrombosis.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-44514-8
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- Article
Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis.
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- Pediatric Rheumatology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12969-023-00909-5
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- Article
Pharmarcomechanical thrombectomy combined with transluminal balloon angioplasty for treating transplant renal vein thrombosis.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-44514-8
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- Article
Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.
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- Thrombosis Journal, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12959-022-00443-6
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- Article
Clinical outcomes of uterine artery embolization and experience of postoperative transvaginal fibroid expulsion: a retrospective analysis.
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- Archives of Gynecology & Obstetrics, 2022, v. 306, n. 3, p. 829, doi. 10.1007/s00404-022-06407-5
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- Article
Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
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- Cell Death & Disease, 2022, v. 13, n. 6, p. 1, doi. 10.1038/s41419-022-04969-5
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- Article
A Primary Extraskeletal Osteosarcoma of the Spleen: Rare Case Report.
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- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.892943
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- Article
Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A.
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- Cardiology Research & Practice, 2022, p. 1, doi. 10.1155/2022/9716045
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- Article
Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
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- Neurological Sciences, 2022, v. 43, n. 4, p. 2555, doi. 10.1007/s10072-021-05673-6
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- Article
A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency.
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- Journal of Gene Medicine, 2022, v. 24, n. 2, p. 1, doi. 10.1002/jgm.3398
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- Article
Retrospective observation of the efficacy and safety of prostatic artery embolization combined with transurethral resection of the prostate and simple transurethral resection of the prostate in the treatment of large (> 100 mL) benign prostatic hyperplasia
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- Abdominal Radiology, 2021, v. 46, n. 12, p. 5746, doi. 10.1007/s00261-021-03258-7
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- Article
Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/9973161
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- Article
Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype.
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- Canadian Journal of Gastroenterology & Hepatology, 2021, p. 1, doi. 10.1155/2021/6610434
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- Article
Improved staining of phosphoproteins with high sensitivity in polyacrylamide gels using Stains- All.
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- Electrophoresis, 2013, v. 34, n. 24, p. 3277, doi. 10.1002/elps.201300328
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- Article