Found: 14
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APOL1 in an ethnically diverse pediatric population with nephrotic syndrome: implications in focal segmental glomerulosclerosis and other diagnoses.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 8, p. 2327, doi. 10.1007/s00467-021-04960-w
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- Article
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.
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- International Journal of Endocrinology, 2016, p. 1, doi. 10.1155/2016/4963574
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- Article
Syndromic Retinitis Pigmentosa: A 15-Patient Study.
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- Genes, 2024, v. 15, n. 4, p. 516, doi. 10.3390/genes15040516
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- Article
Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.
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- Sexual Development, 2023, v. 17, n. 4-6, p. 242, doi. 10.1159/000526036
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- Article
Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.
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- Sexual Development, 2022, v. 16, n. 4, p. 242, doi. 10.1159/000526036
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- Article
NPHS2 Mutations: A Closer Look to Latin American Countries.
- Published in:
- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/7518789
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- Article
Bilateral Wilms' tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region.
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- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 6, p. 837, doi. 10.1515/jpem-2021-0673
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- Article
Prenatal Findings in Postnatal Cases of Disorders of Sex Development: Experience from a Tertiary-Specialized Center in Brazil.
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- Fetal Diagnosis & Therapy, 2024, v. 51, n. 1, p. 49, doi. 10.1159/000534401
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- Article
NPHS2 mutations account for only 15 % of nephrotic syndrome cases.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0231-9
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- Article
X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63536
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- Article
SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 592, doi. 10.1002/ajmg.a.63051
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- Article
Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study.
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- Sao Paulo Medical Journal, 2023, v. 141, n. 4, p. 1, doi. 10.1590/1516-3180.2022.0281.R1.30082022
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- Article
Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family.
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- Molecular Genetics & Genomics, 2020, v. 295, n. 1, p. 135, doi. 10.1007/s00438-019-01609-0
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- Article
AVALIAÇÃO MOLECULAR DOS GENES NPHS2 E WT1 EMCRIANÇAS BRASILEIRAS COMSÍNDROME NEFRÓTICA IDIOPÁTICA.
- Published in:
- Brazilian Journal of Nephrology / Jornal Brasileiro de Nefrologia, 2013, v. 35, n. 1, Supp 1, p. 23
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- Article