Found: 15
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A boy with hand anomalies similar to those documented with prenatal misoprostol exposure.
- Published in:
- Middle East Journal of Medical Genetics, 2013, v. 2, n. 2, p. 58, doi. 10.1097/01.MXE.0000430778.37375.13
- By:
- Publication type:
- Article
Current trends in biobanking for rare diseases: a review.
- Published in:
- Journal of Biorepository Science for Applied Medicine, 2014, v. 2, p. 49, doi. 10.2147/BSAM.S46707
- By:
- Publication type:
- Article
The need for genetic studies of Indigenous Australians.
- Published in:
- 2012
- By:
- Publication type:
- Letter
The risk of major structural birth defects associated with seasonal influenza vaccination during pregnancy: A population‐based cohort study.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 19, p. 1244, doi. 10.1002/bdr2.2049
- By:
- Publication type:
- Article
Overexpression of Aromatase Associated With Loss of Heterozygosity of the STK11 Gene Accounts for Prepubertal Gynecomastia in Boys with Peutz-Jeghers Syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91465-z
- By:
- Publication type:
- Article
Birth prevalence of congenital heart defects in Western Australia, 1990–2016.
- Published in:
- Journal of Paediatrics & Child Health, 2021, v. 57, n. 10, p. 1672, doi. 10.1111/jpc.15592
- By:
- Publication type:
- Article
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
- Published in:
- Journal of Paediatrics & Child Health, 2021, v. 57, n. 4, p. 477, doi. 10.1111/jpc.15382
- By:
- Publication type:
- Article
Report and review of described associations of Mayer-Rokitansky-Küster-Hauser syndrome and Silver-Russell syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Objective Monitoring of mTOR Inhibitor Therapy by Three-Dimensional Facial Analysis.
- Published in:
- Twin Research & Human Genetics, 2013, v. 16, n. 4, p. 840, doi. 10.1017/thg.2013.49
- By:
- Publication type:
- Article
A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible gene-environment interactions.
- Published in:
- 2010
- By:
- Publication type:
- journal article
The GA4GH Phenopacket schema defines a computable representation of clinical data.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Protecting the rare during a rare pandemic.
- Published in:
- 2020
- By:
- Publication type:
- letter
Prevalence of microcephaly in an Australian population-based birth defects register, 1980-2015.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Translating Aboriginal genomics - four letters Closing the Gap.
- Published in:
- 2016
- By:
- Publication type:
- letter