Found: 7
Select item for more details and to access through your institution.
Silver Russel syndrome in an aboriginal patient from Australia.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2561, doi. 10.1002/ajmg.a.40502
- By:
- Publication type:
- Article
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology.
- Published in:
- Bioinformatics, 2024, v. 40, n. 7, p. 1, doi. 10.1093/bioinformatics/btae406
- By:
- Publication type:
- Article
Use of privacy‐preserving record linkage to examine the dispensing of pharmaceutical benefits scheme medicines to pregnant women in Western Australia.
- Published in:
- Pharmacoepidemiology & Drug Safety, 2024, v. 33, n. 6, p. 1, doi. 10.1002/pds.5845
- By:
- Publication type:
- Article
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00611
- By:
- Publication type:
- Article
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.
- Published in:
- Pediatric Dermatology, 2019, v. 36, n. 6, p. 1002, doi. 10.1111/pde.13995
- By:
- Publication type:
- Article
Further evidence for distinct traits associated with RBM10 missense variants.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 161, doi. 10.1111/cge.14163
- By:
- Publication type:
- Article
An evaluation of GPT models for phenotype concept recognition.
- Published in:
- BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02439-w
- By:
- Publication type:
- Article