Found: 14
Select item for more details and to access through your institution.
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 465, doi. 10.1007/s00439-021-02336-6
- By:
- Publication type:
- Article
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 2, p. 221, doi. 10.1111/cge.13368
- By:
- Publication type:
- Article
Clinical utility of non-invasive prenatal testing in pregnancies with ultrasound anomalies.
- Published in:
- 2017
- By:
- Publication type:
- journal article
OP08.01: The effect of a decision aid on informed decision making in the era of non-invasive prenatal testing: a randomised controlled trial.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 75, doi. 10.1002/uog.16231
- By:
- Publication type:
- Article
Abstracts of the 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy, 24-28 September 2016.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 4, p. 319, doi. 10.1111/cge.12433
- By:
- Publication type:
- Article
Genotype phenotype correlations for hearing impairment: Approaches to management.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 6, p. 514, doi. 10.1111/cge.12339
- By:
- Publication type:
- Article
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 2, p. 194, doi. 10.1111/cge.12125
- By:
- Publication type:
- Article
W01-01 - From karyotype to targeted microarray
- Published in:
- 2012
- By:
- Publication type:
- Abstract
P-711 - Genetic syndromes and the autism spectrum
- Published in:
- 2012
- By:
- Publication type:
- Abstract
P-713 - A de novo microdeletion in chromosome 8q12.3q13.2: association with mild intellectual disability and epilepsy?
- Published in:
- 2012
- By:
- Publication type:
- Abstract
Globozoospermia revisited.
- Published in:
- Human Reproduction Update, 2007, v. 13, n. 1, p. 63, doi. 10.1093/humupd/dml047
- By:
- Publication type:
- Article
Cytogenetic genotype-phenotype studies: Improving genotyping, phenotyping and data storage.
- Published in:
- Cytogenetic & Genome Research, 2006, v. 115, n. 3/4, p. 231, doi. 10.1159/000095919
- By:
- Publication type:
- Article