Found: 28
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Pneumococcal pneumonia complicated by Aspergillus fumigatus and Pseudomonas aeruginosa lung abscesses.
- Published in:
- Pediatric Pulmonology, 2024, v. 59, n. 4, p. 1077, doi. 10.1002/ppul.26854
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- Publication type:
- Article
Impact of tracheostomies on the long‐term survival of patients with trisomy 13 syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2736, doi. 10.1002/ajmg.a.63393
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- Publication type:
- Article
Delayed pneumomediastinum following oropharyngeal injury: A report of two pediatric cases.
- Published in:
- Trauma, 2023, v. 25, n. 3, p. 262, doi. 10.1177/14604086221141978
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- Publication type:
- Article
Painless subcutaneous abscess caused by bacillus Calmette–Guérin osteomyelitis.
- Published in:
- 2023
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- Publication type:
- Case Study
Efficacy of combination therapy for childhood complicated focal IgA nephropathy.
- Published in:
- Clinical & Experimental Nephrology, 2022, v. 26, n. 6, p. 561, doi. 10.1007/s10157-022-02190-4
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- Publication type:
- Article
Improving survival in patients with trisomy 18.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1048, doi. 10.1002/ajmg.a.62605
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- Publication type:
- Article
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 2, p. 262, doi. 10.1093/ndt/gfab274
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- Publication type:
- Article
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
- Published in:
- Clinical & Experimental Nephrology, 2021, v. 25, n. 11, p. 1224, doi. 10.1007/s10157-021-02099-4
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- Publication type:
- Article
A pediatric case of tocilizumab-resistant TAFRO syndrome treated successfully with rituximab.
- Published in:
- 2020
- By:
- Publication type:
- case study
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 12, p. 2319, doi. 10.1007/s00467-020-04701-5
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- Publication type:
- Article
Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1342
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- Publication type:
- Article
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16605-x
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- Publication type:
- Article
Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01019-9
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- Publication type:
- Article
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.883
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- Publication type:
- Article
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
- Published in:
- Clinical & Experimental Nephrology, 2019, v. 23, n. 5, p. 669, doi. 10.1007/s10157-018-1682-z
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- Publication type:
- Article
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
- Published in:
- Clinical & Experimental Nephrology, 2019, v. 23, n. 2, p. 158, doi. 10.1007/s10157-018-1629-4
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- Publication type:
- Article
The utility of urinary CD80 as a diagnostic marker in patients with renal diseases.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35798-2
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- Publication type:
- Article
Three Severe Cases of Viral Infections with Post-Kidney Transplantation Successfully Confirmed by Polymerase Chain Reaction and Flow Cytometry.
- Published in:
- Case Reports in Nephrology & Dialysis, 2018, v. 8, n. 3, p. 198, doi. 10.1159/000493092
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- Publication type:
- Article
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
- Published in:
- Clinical & Experimental Nephrology, 2018, v. 22, n. 4, p. 881, doi. 10.1007/s10157-018-1534-x
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- Publication type:
- Article
Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits.
- Published in:
- Respiration, 2018, v. 95, n. 2, p. 166, doi. 10.1159/000484209
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- Publication type:
- Article
An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
- Published in:
- 2017
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- Publication type:
- journal article
Diagnostic strategy for inherited hypomagnesemia.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 6, p. 1003, doi. 10.1007/s10157-017-1396-7
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- Publication type:
- Article
Changes in the numbers of patients with acute gastroenteritis after voluntary introduction of the rotavirus vaccine in a Japanese children's primary emergency medical center.
- Published in:
- Environmental Health & Preventive Medicine, 2017, v. 22, n. 1, p. 1, doi. 10.1186/s12199-017-0638-3
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- Publication type:
- Article
Female X-linked Alport syndrome with somatic mosaicism.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 5, p. 877, doi. 10.1007/s10157-016-1352-y
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- Publication type:
- Article
Clinical characteristics and long-term outcome of diarrhea-associated hemolytic uremic syndrome: a single center experience.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 5, p. 889, doi. 10.1007/s10157-016-1376-3
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- Publication type:
- Article
A birth of bipartite exon by intragenic deletion.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 287, doi. 10.1002/mgg3.277
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- Publication type:
- Article
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
- Published in:
- Clinical & Experimental Nephrology, 2017, v. 21, n. 1, p. 136, doi. 10.1007/s10157-016-1256-x
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- Publication type:
- Article
Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1.
- Published in:
- Clinical & Experimental Nephrology, 2016, v. 20, n. 2, p. 253, doi. 10.1007/s10157-015-1160-9
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- Publication type:
- Article