Differential mutational profiles of familial Mediterranean fever in North Africa.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 6, p. 423, doi. 10.1111/ahg.12404
- By:
- Publication type:
- Article
Works matching IS 00034800 AND DT 2020 AND VI 84 AND IP 6
Results: 7
1
2
RT‐PCR analysis of mRNA revealed the splice‐altering effect of rare intronic variants in monogenic disorders.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 6, p. 456, doi. 10.1111/ahg.12400
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- Publication type:
- Article
3
The role of WNT1 mutant variant (WNT1<sup>c.677C>T</sup>) in osteogenesis imperfecta.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 6, p. 447, doi. 10.1111/ahg.12399
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- Publication type:
- Article
4
NCAPH is upregulated in endometrial cancer and associated with poor clinicopathologic characteristics.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 6, p. 437, doi. 10.1111/ahg.12398
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- Publication type:
- Article
5
Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 6, p. 431, doi. 10.1111/ahg.12397
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- Publication type:
- Article
6
Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 6, p. 463, doi. 10.1111/ahg.12396
- By:
- Publication type:
- Article
7
Issue Information.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 6, p. 1, doi. 10.1111/ahg.12334
- Publication type:
- Article