Maristella Steri, Valeria Orrú, Maria Laura Idda, Maristella Pitzalis, Mauro Pala, Ilenia Zara, Sidore Carlo, Valeria Faa, Matteo Floris, ..., Roberto Cusano, Gianmauro Cuccuru, . ..., Francesco Cucca

The New England Journal of Medicine pages 1615-1626 vol. 376 - april 2017 doi: 10.1056/NEJMoa1610528

Publications en 2016

Various talks, works and publications

[6-CAU16]

Mutations in KLHL7, a Dominant Retinitis Pigmentosa - Locus, Cause a Recessive Crisponi/CISS1-like phenotype

Laura Crisponi, Andrea Angius, Paolo Uva, ..., Gianmauro Cuccuru, Giorgio Fotia, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016

[6-R.U16]

Ricerca di geni coinvolti in immunodeficienze primarie (PID) e in malattie autoinfiammatorie (AIDs) tramite whole-exome sequencing

Marta Rusmini, ..., Paolo Uva, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - november 2016

Publications en 2015

Peer-reviewed publications in International Journals

[2-ZC.15]

Height-reducing variants and selection for short stature in Sardinia

Magdalena Zoledziewska, Sidore Carlo, ..., Matteo Floris, . ..., David Schlessinger, Francesco Cucca

Nature Genetics pages 1352--6 vol. 47 num. 11 - 2015 doi: 10.1038/ng.3403

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