Found: 14
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A systematic review and evidence assessment of monogenic gene–disease relationships in human female infertility and differences in sex development.
- Published in:
- Human Reproduction Update, 2023, v. 29, n. 2, p. 218, doi. 10.1093/humupd/dmac044
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- Publication type:
- Article
Evolutionary functional analysis and molecular regulation of the ZEB transcription factors.
- Published in:
- Cellular & Molecular Life Sciences, 2012, v. 69, n. 16, p. 2527, doi. 10.1007/s00018-012-0935-3
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- Publication type:
- Article
Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers.
- Published in:
- BMC Cancer, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12885-024-12442-z
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- Publication type:
- Article
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
- Published in:
- 2019
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- Publication type:
- journal article
Convert your favorite protein modeling program into a mutation predictor: "MODICT".
- Published in:
- BMC Bioinformatics, 2016, v. 17, p. 1, doi. 10.1186/s12859-016-1286-0
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- Publication type:
- Article
Rare genetic variants potentially involved in ovarian hyperstimulation syndrome.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 3, p. 491, doi. 10.1007/s10815-018-1372-5
- By:
- Publication type:
- Article
EDIR: exome database of interspersed repeats.
- Published in:
- Bioinformatics, 2023, v. 39, n. 1, p. 1, doi. 10.1093/bioinformatics/btac771
- By:
- Publication type:
- Article
Intra‐amniotic levothyroxine infusions in a case of fetal goiter due to novel Thyroglobulin gene variants.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Case report: Coexistence of myotonia congenita and Brugada syndrome in one family.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
I-PV: a CIRCOS module for interactive protein sequence visualization.
- Published in:
- 2016
- By:
- Publication type:
- Product Review
Ascites in infantile onset type II Sialidosis.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3566, doi. 10.1093/hmg/ddaa250
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- Publication type:
- Article
Clinical implementation of gene panel testing for lysosomal storage diseases.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.527
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- Publication type:
- Article
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6191307
- By:
- Publication type:
- Article