Found: 8
Select item for more details and to access through your institution.
Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.
- Published in:
- Rheumatology, 2023, v. 62, n. 1, p. 473, doi. 10.1093/rheumatology/keac274
- By:
- Publication type:
- Article
Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.
- Published in:
- Liver International, 2021, v. 41, n. 8, p. 1894, doi. 10.1111/liv.14935
- By:
- Publication type:
- Article
Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.
- Published in:
- Molecular Reproduction & Development, 2018, v. 85, n. 8/9, p. 682, doi. 10.1002/mrd.23055
- By:
- Publication type:
- Article
De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder.
- Published in:
- Arthritis & Rheumatology, 2023, v. 75, n. 3, p. 468, doi. 10.1002/art.42354
- By:
- Publication type:
- Article
CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 3, p. 317, doi. 10.1111/cge.14459
- By:
- Publication type:
- Article
A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.81280
- By:
- Publication type:
- Article
Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 1052, doi. 10.1093/hmg/ddy368
- By:
- Publication type:
- Article
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1196, doi. 10.1093/hmg/ddy034
- By:
- Publication type:
- Article