Avel·lí Artís-Gener

Recent publications · Crossref

5 total works indexed

1. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

   · 2003 · cited 749x

2. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

   · 2009 · cited 634x

3. Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

   · 2015 · cited 548x

4. Osteo-chondroprogenitor cells are derived from Sox9 expressing precursors

   · 2005 · cited 530x

5. River ecosystem metabolism and carbon biogeochemistry in a changing world

   · 2023 · cited 455x

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