Found: 7
Select item for more details and to access through your institution.
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 2, p. 177, doi. 10.1111/cge.12459
- By:
- Publication type:
- Article
A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 1, p. 74, doi. 10.1111/cge.12448
- By:
- Publication type:
- Article
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 2, p. 155, doi. 10.1111/cge.12247
- By:
- Publication type:
- Article
Carrier frequency of two BBS2 mutations in the Ashkenazi population.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 6, p. 578, doi. 10.1111/cge.12231
- By:
- Publication type:
- Article
A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 4, p. 343, doi. 10.1111/cge.12170
- By:
- Publication type:
- Article
When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 10, p. 2103, doi. 10.1007/s10815-019-01550-6
- By:
- Publication type:
- Article
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1170, doi. 10.1002/ajmg.a.33972
- By:
- Publication type:
- Article