OpenAlex 1,381 works 14 author topics
Works
1,381 works
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YÖKSİS
SJR Q1
JCR Q1
OpenAlex top 1%
OpenAlex 100.0%
BACKGROUND: We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood. METHODS: We performed…
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YÖKSİS
SJR Q1
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OpenAlex top 1%
OpenAlex 99.6%
No abstract yet.
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YÖKSİS
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OpenAlex top 1%
OpenAlex 99.5%
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YÖKSİS
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JCR Q3
OpenAlex top 1%
OpenAlex 99.7%
Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhi…
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YÖKSİS
SJR Q1
JCR Q2
OpenAlex top 1%
OpenAlex 99.8%
No abstract yet.
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YÖKSİS
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OpenAlex top 1%
OpenAlex 99.8%
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YÖKSİS
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OpenAlex top 1%
OpenAlex 99.8%
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YÖKSİS
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OpenAlex top 1%
OpenAlex 99.8%
No abstract yet.
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YÖKSİS
SJR Q1
JCR Q1
OpenAlex top 1%
OpenAlex 99.9%
No abstract yet.
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OpenAlex top 10%
OpenAlex 91.4%
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YÖKSİS
SJR Q1
JCR Q2
OpenAlex 82.5%
No abstract yet.
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OpenAlex top 10%
OpenAlex 95.0%
BACKGROUND: Members of the p47 (immunity-related GTPases (IRG) family) GTPases are essential, interferon-inducible resistance factors in mice that are active against a broad spectrum of important intracellular pathogens. Surprisingly, there are no reports of p47 function in humans. RESULTS: Here we show that the p47 G…
Academicians
14 academicians
- EDA TAHİR TURANLI 10 author topics
- BANU PEYNİRCİOĞLU 8 author topics
- RAMAZAN GÜNEŞAÇAR 6 author topics
- ECİR ALİ ÇAKMAK 4 author topics
- NESRİN ERKOL 4 author topics
- MUHAMMET MURAT ÇELİK 3 author topics
- VOLKAN YAZAR 3 author topics
- AYÇA ÇAKMAK AYDIN 2 author topics
- DAMLA YILDIRIM DAĞTAŞ 2 author topics
- DUYGU MERVE ÇALIŞKAN 2 author topics
- ELİF GELMEZ 2 author topics
- KIYMET ASLI KİREÇTEPE AYDIN 2 author topics