[HTML][HTML] A Xp22. 11-p21. 3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers
A Begemann, B Oneda, A Baumer, M Guldimann… - European Journal of …, 2022 - Elsevier
POLA1 encodes a subunit of the DNA polymerase alpha, a key enzyme for the initiation of
DNA synthesis. In males, hemizygous hypomorphic variants in POLA1 have been identified …
DNA synthesis. In males, hemizygous hypomorphic variants in POLA1 have been identified …
Quantitative Geometric Modeling of Blood Cells from X-ray Histotomograms of Whole Zebrafish Larvae
Tissue phenotyping is foundational to understanding and assessing the cellular aspects of
disease in organismal context and an important adjunct to molecular studies in the …
disease in organismal context and an important adjunct to molecular studies in the …
Counting with manifolds. An adaptively optimized algorithm for identifying cells in X-ray micro-CT scans of biomaterials.
Résumé Living organisms and, consequently, biomaterials are made of cells. Identifying
them and characterizing their geometry and spatial distribution is the first step towards …
them and characterizing their geometry and spatial distribution is the first step towards …