Výsledky vyhledávání - "Arif Mehboobali"

Akademický článek

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer at an academic medical centre in Pakistan

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-19 (2022)

Abstract Background Breast cancer is the most common malignancy in women, affecting over 1.5 million women every year, which accounts for the highest number of cancer-related deaths in women globally. Hereditary breast cancer (HBC), an important subs

Externí odkaz: https://doaj.org/article/18e7b363f9924c718f4c11e3e8f2698f

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Akademický článek

P097: Clinical whole genome sequencing for a highly consanguineous population in low-resource settings: Experience from an academic medical center in Pakistan

Autor: Fizza Akbar, Arif Mehboobali, Zohra Hasan, Sidra Kaleem, Shahnaz Ibrahim, Salman Kirmani

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100126- (2023)

Externí odkaz: https://doaj.org/article/f54ad9626f724744b394093affee3c89

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Akademický článek

P214: Experience in delivering free of cost gene therapy for spinal muscular atrophy using the managed access program in Pakistan

Autor: Salman Kirmani, Fizza Akbar, Arif Mehboobali, Sidra Kaleem

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100242- (2023)

Externí odkaz: https://doaj.org/article/6f51d5cf23134f7388fa4910c524312a

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