Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript. [PDF]
Schwartz M +22 more
europepmc +1 more source
Molecular testing for respiratory pathogens in sickle cell disease adult patients presenting with febrile acute chest syndrome. [PDF]
Raffetin A +11 more
europepmc +1 more source
L'articulation science/innovation en France : dix ans d'action publique pour le développement de la génomique et des biotechnologies [PDF]
Ce papier analyse historiquement les évolutions des institutions dans le SNRI français sur la décennie 1985-1996 et leur processus d'apprentissage d'un nouveau paradigme de production des connaissances et d'innovation, à partir du cas des sciences du ...
Anne Branciard
core
Six Years of Genetic Diagnosis of Severe Early-Onset Obesity in a French Cohort. [PDF]
Rama M +12 more
europepmc +1 more source
Insights into the structure and evolution of the human SAGA complex by affinity-ligand purification. [PDF]
Damilot M +6 more
europepmc +1 more source
Genome region aware CADD thresholds for noncoding variant prioritization. [PDF]
Tenywa JF +6 more
europepmc +1 more source
Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathway. [PDF]
Somani B +20 more
europepmc +1 more source
A Partial <i>UMOD</i> Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin. [PDF]
Fagnoul S +10 more
europepmc +1 more source

