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Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Archive ouverte | Giannuzzi, Giuliana | CCSD

International audience. Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 p...

A draft human pangenome reference

Archive ouverte | Liao, Wen-Wei | CCSD

International audience. Abstract Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetical...

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

Archive ouverte | de Nittis, Pasquelena | CCSD

International audience. Background Pathogenic variants of GNB5 encoding the β 5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated w...

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