The cystic fibrosis delta F508 mutation in the Albanian population

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International journal of pharmaceutics·2025

Fatal respiratory infection due to ST308 VIM-1-producing Pseudomonas aeruginosa in a lung transplant recipient: case report and review of the literature.

BMC infectious diseases·2020

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe.

Science advances·2019

Targeted genotyping by sequencing: a new way to genome profile the cat.

Animal genetics·2019

Investigation of extended Y chromosome STR haplotypes in Sardinia.

Forensic science international. Genetics·2017

Virtual crossmatch in kidney transplantation.

Transplantation proceedings·2014

Functional stratification of YWHAZ variants explains distinct neurodevelopmental disorders.

American journal of human genetics·2026

De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.

American journal of human genetics·2026

The genetic architecture of pentanucleotide repeat variation and disease association.

American journal of human genetics·2026

Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing.

American journal of human genetics·2026

De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons.

American journal of human genetics·2026

Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.

American journal of human genetics·2026

Biologging and mechanistic niche modelling reveal thermal dependence of individual lizard movement patterns.

The Journal of animal ecology·2026

HSP27, cell stress, and hormesis: From mammals to humanized yeast models.

Biochemical pharmacology·2026

A Residue-Resolved Mechanism for Trapped-Twist Spectral Tuning in Cyanobacteriochromes.

The journal of physical chemistry. B·2026

Acute loss of PLIN5 in brown adipocytes reveals its indispensable role in maintaining mitochondrial function and cold tolerance.

The Journal of biological chemistry·2026

High-resolution paleobiome reconstructions highlight ecological and historical dynamics underpinning global terrestrial vertebrate diversity.

PLoS biology·2026

Behavioral hyperactivity and hippocampal mitochondrial dysfunction following recurrent concussions in young mice.

Molecular and cellular biochemistry·2026

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