イシドル・バラホフ

Recent publications · Crossref

5 total works indexed

1. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

   · 2014 · cited 555x

2. 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

3. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

   · 2010 · cited 458x

4. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

   · 2011 · cited 406x

5. Loss of osseointegration caused by occlusal load of oral implants. A clinical and radiographic study in monkeys.

   · 1996 · cited 384x

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