Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus [PDF]
Nicola Ragge+5 more
openalex +1 more source
Single‐Cell Nucleus Extraction with Cellular Indexing
VacTrap is a multilayer, high‐throughput microfluidic system that isolates and spatially indexes single nuclei from hundreds of cells within minutes. Using dissolvable hydrogel trapdoors triggered by chemical and vacuum actuation, VacTrap synchronously transfers nuclei while preserving spatial links to parent cells.
Trinh Lam+7 more
wiley +1 more source
Molecular characterization of imprinting disorders: Beckwith-Wiedemann, Silver-Russell, and Prader-Willi syndromes in Egyptian patients. [PDF]
Mohamed AM+11 more
europepmc +1 more source
Genome‐wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: Fine mapping adds support on chromosomes 6 and 11 [PDF]
Carlos N. Pato+19 more
openalex +1 more source
Opinion: the evolving understanding of polygenic common variable immunodeficiency-like disorders. [PDF]
Ameratunga R+4 more
europepmc +1 more source
We generated genetically stable iPSCs from HGPS patients using a nonintegrative Sendai virus method. This approach preserves cellular integrity, enhances disease modeling, and enables accurate study of Progerin‐induced cardiovascular dysfunction. Overall, it provides a reliable platform for understanding HGPS and aging‐related disease pathology and ...
Juned Kadiwala, Rameen Shakur
wiley +1 more source
Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report. [PDF]
Jiang W, Ji T, Wu Q, Xu Z, Xia X.
europepmc +1 more source
Thyroid Fetal Male Microchimerisms in Mothers with Thyroid Disorders: Presence of Y-Chromosomal Immunofluorescence in Thyroid-Infiltrating Lymphocytes Is More Prevalent in Hashimoto’s Thyroiditis and Graves’ Disease Than in Follicular Adenomas [PDF]
Christoph Renné+12 more
openalex +1 more source