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Your search keyword '"Klein, Christoph"' showing total 13 results

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Start Over You searched for: Author "Klein, Christoph" Remove constraint Author: "Klein, Christoph" Journal nature genetics Remove constraint Journal: nature genetics
13 results on '"Klein, Christoph"'

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1. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

2. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

3. Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

4. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

5. Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

6. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

8. Gain-of-function variants in SYKcause immune dysregulation and systemic inflammation in humans and mice

9. Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes

10. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

13. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

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