Found: 18
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Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin.
- Published in:
- Oncogene, 2010, v. 29, n. 1, p. 26, doi. 10.1038/onc.2009.301
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- Publication type:
- Article
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
- Published in:
- Clinical Genetics, 2016, v. 90, n. 6, p. 540, doi. 10.1111/cge.12764
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- Publication type:
- Article
A role for TENM1 mutations in congenital general anosmia.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 211, doi. 10.1111/cge.12782
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- Publication type:
- Article
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c. 109C>T (p. R37X).
- Published in:
- Clinical Genetics, 2015, v. 87, n. 5, p. 461, doi. 10.1111/cge.12420
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- Publication type:
- Article
Attitudes of couples identified through screening as carriers of Gaucher disease type 1.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 566, doi. 10.1111/j.1399-0004.2008.01063.x
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- Publication type:
- Article
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.
- Published in:
- Breast Cancer Research & Treatment, 2022, v. 193, n. 1, p. 217, doi. 10.1007/s10549-022-06557-9
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- Publication type:
- Article
Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.
- Published in:
- 2007
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- Publication type:
- journal article
Preimplantation genetic diagnosis (PGD) for monogenic disorders. When blastomere analysis may be impossible.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 20, p. S17, doi. 10.1016/S1472-6483(10)62305-X
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- Publication type:
- Article
Preimplantation Genetic Diagnosis (PGD) for germline mosaicism.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 20, p. S15, doi. 10.1016/S1472-6483(10)62298-5
- By:
- Publication type:
- Article
Preimplantation genetic diagnosis for nonsyndromic deafness by polar body and blastomere biopsy.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-46
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- Publication type:
- Article
Preimplantation genetic diagnosis in a highly recombinant region: when crossover between the TSC2 gene and linked markers makes accurate diagnosis extremely difficult.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, p. S-30, doi. 10.1016/S1472-6483(10)61369-7
- By:
- Publication type:
- Article
Successful polar body-based preimplantation genetic diagnosis for achondroplasia.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, n. 2, p. 276, doi. 10.1016/S1472-6483(10)60586-X
- By:
- Publication type:
- Article
Familial haplotyping and embryo analysis for Preimplantation Genetic Diagnosis (PGD) using DNA microarrays: a proof of principle study.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 12, p. 1595, doi. 10.1007/s10815-013-0044-8
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- Publication type:
- Article
Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 4, p. 317, doi. 10.1002/pd.1668
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- Publication type:
- Article
Polar Body-Based Preimplantation Genetic Diagnosis for N-Acetylglutamate Synthase Deficiency.
- Published in:
- Fetal Diagnosis & Therapy, 2008, v. 24, n. 3, p. 170, doi. 10.1159/000151333
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- Publication type:
- Article
Cancer risks among BRCA1 and BRCA2 mutation carriers.
- Published in:
- British Journal of Cancer, 2007, v. 96, n. 1, p. 11, doi. 10.1038/sj.bjc.6603535
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- Publication type:
- Article
Amyloid (Aβ) deposition in chromosome 1-linked Alzheimer's disease: The volga german families.
- Published in:
- Annals of Neurology, 1997, v. 41, n. 1, p. 52, doi. 10.1002/ana.410410110
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- Publication type:
- Article
Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease.
- Published in:
- British Journal of Haematology, 1993, v. 85, n. 4, p. 783, doi. 10.1111/j.1365-2141.1993.tb03224.x
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- Publication type:
- Article