Results 111 to 120 of about 38,835 (164)

Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript. [PDF]

open access: yesNPJ Genom Med
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]

open access: yesMed Mal Infect, 2020
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]

open access: yes
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]

open access: yesObes Sci Pract
Rama M   +12 more
europepmc   +1 more source

Insights into the structure and evolution of the human SAGA complex by affinity-ligand purification. [PDF]

open access: yesSci Adv
Damilot M   +6 more
europepmc   +1 more source

Genome region aware CADD thresholds for noncoding variant prioritization. [PDF]

open access: yesNAR Genom Bioinform
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]

open access: yesWorld J Urol
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]

open access: yesKidney Med
Fagnoul S   +10 more
europepmc   +1 more source

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