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Study of novel androgen receptor V770 variant in androgen insensitivity syndrome patients reveals the transitional state of the androgen receptor ligand binding domain homodimer.
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- Protein Science: A Publication of the Protein Society, 2023, v. 32, n. 4, p. 1, doi. 10.1002/pro.4599
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- Article
Mutations in INSL3 and RXFP2 Genes in Cryptorchid Boys.
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- Annals of the New York Academy of Sciences, 2009, v. 1160, p. 213, doi. 10.1111/j.1749-6632.2008.03784.x
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- Article
A cryptozoospermic infertile male with Y chromosome AZFc microdeletion and low FSH levels due to a simultaneous polymorphism in the FSHB gene: a case report.
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- Human Reproduction, 2024, v. 39, n. 3, p. 504, doi. 10.1093/humrep/dead277
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- Article
Genetic Causes of Qualitative Sperm Defects: A Narrative Review of Clinical Evidence.
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- Genes, 2024, v. 15, n. 5, p. 600, doi. 10.3390/genes15050600
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- Article
Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism.
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- European Journal of Endocrinology, 2005, v. 152, n. 3, p. 419, doi. 10.1530/eje.1.01860
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- Article
Mutational Screening of Androgen Receptor Gene in 8224 Men of Infertile Couples.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 5, p. 1181, doi. 10.1210/clinem/dgac671
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- Article
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01160-5
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- Article
Insulin-Like Factor 3: A Novel Circulating Hormone of Testis Origin in Humans.
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 12, p. 5952, doi. 10.1210/jc.2004-0575
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- Article
Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations.
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- Clinical Endocrinology, 2006, v. 65, n. 5, p. 606, doi. 10.1111/j.1365-2265.2006.02635.x
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- Article
Bone Mass in Subjects with Klinefelter Syndrome: Role of Testosterone Levels and Androgen Receptor Gene CAG Polymorphism.
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- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 4, p. E739, doi. 10.1210/jc.2010-1878
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- Article
Somatic mosaicism in von Hippel-Lindau disease.
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- Human Mutation, 2000, v. 15, n. 1, p. 114, doi. 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7
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- Article
Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR gene.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1207
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- Article