Search Results - "O'Connor, Bridget C."

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Authors: Ziats, Mark N. Ahmad, Ayesha Bernat, John A. et al.

Source: Pediatric Research; Mar2020, Vol. 87 Issue 4, p735-739, 5p

All in the Details: A First Assessment for the Viability of Metabarcoding in Diet Composition Analysis of African Wild Dogs (Lycaon pictus).

Authors: O'Connor, Bridget C. Crossey, Bruce Hall, Grant et al.

Source: Ecology & Evolution (20457758); Nov2024, Vol. 14 Issue 11, p1-17, 17p

Subject Terms: WILD dogs, STABLE isotope analysis, ENDANGERED species, CANIDAE, DNA sequencing

The introduction of genetic counseling in Ethiopia: Results of a training workshop and lessons learned.

Authors: Quinonez, Shane C. O'Connor, Bridget C. Jacobs, Michelle F. et al.

Source: PLoS ONE; 7/23/2021, Vol. 16 Issue 7, p1-13, 13p

Subject Terms: GENETIC counseling, NEONATAL sepsis, ADULT education workshops, CHILD mortality, COUNSELING, MECKEL diverticulum, COMORBIDITY, MEDICAL genetics

Geographic Terms: ETHIOPIA, ADDIS Ababa (Ethiopia), SUB-Saharan Africa

Knowledge and attitudes about genetic counseling in patients at a major hospital in Addis Ababa, Ethiopia.

Authors: Jacobs, Michelle F. O'Connor, Bridget C. Weldetsadik, Abate Yeshidinber et al.

Source: Journal of Genetic Counseling; Apr2021, Vol. 30 Issue 2, p544-552, 9p

Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model.

Authors: Uehara, Tomoko Suzuki, Hidenori Okamoto, Nobuhiko et al.

Source: Scientific Reports; 3/14/2019, Vol. 9 Issue 1, p1-1, 1p

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Authors: Mirzaa, Ghayda Timms, Andrew E. Conti, Valerio et al.

Contributors: Mirzaa, Ghayda Timms, Andrew E. Conti, Valerio et al.

Source: JCI Insight

File Description: application/pdf

Relation: https://eprints.qut.edu.au/192076/1/48476383.pdf; https://eprints.qut.edu.au/192076/

Availability: https://doi.org/10.1172/jci.insight.87623
https://eprints.qut.edu.au/192076/