Last Posted: Aug 31, 2020
- Genetic modifiers in rare disorders: the case of fragile X syndrome.
Crawford Hayley et al. European journal of human genetics : EJHG 2020 Aug - Socioeconomic status and uptake of reproductive carrier screening in Australia.
Robson Stephen J et al. The Australian & New Zealand journal of obstetrics & gynaecology 2020 Aug - EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.
Carroll Renee et al. European journal of medical genetics 2020 Jul 104010 - Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
Movaghar Arezoo et al. Science advances 2019 5(8) eaaw7195 - Genetics in human reproduction.
Rodrigues Vivian de Oliveira et al. JBRA assisted reproduction 2020 Apr - Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders.
Borch Lauren A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar - Fragile X-associated conditions: implications for the whole family.
McKechanie Andrew G et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2019 Sep 69(686) 460-461 - Challenges in molecular diagnosis of X-linked Intellectual disability.
De Luca Chiara et al. British medical bulletin 2020 Feb - Fragile X syndrome: clinical presentation, pathology and treatment.
Salcedo-Arellano María Jimena et al. Gaceta medica de Mexico 2020 156(1) 60-66 - Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa).
Kengne Kamga Karen et al. Genes 2020 Jan 11(2)
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