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Fizza Akbar

As seen in: Wiley Online Library, eCancer
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Articles

Esophageal squamous cell carcinoma in a patient with BRCA1 mutation: a rare association

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By Mirza Rameez Samar, Fizza Akbar, Romana Idrees, Daania Shoaib
| eCancer Verified
Background: Esophageal neoplasms rank as the 7th most common cancers in the world. Squamous cell carcinomas of esophagus (SCCE) are the predominant subset, linked to a number of genetic alterations. Gene-driven tumour pathways are being increasingly identified with the emerging role of next-generation sequencing. Case presentation: We report a case of an 82-year-old male patient who was diagnosed with SCCE involving the cervical region.
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Clinical experience of next generation sequencing based expanded carrier screening in high‐risk couples from a tertiary healthcare center in Pakistan

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By Fizza Akbar, Salman Kirmani, Muhammad Farrukh Qazi, Najia Minhas Ali
| Wiley Online Library Verified
Carrier screening for genetic conditions has long been a part of preconception and prenatal care. While the use of expanded carrier screening (ECS) is widely common in HICs (high income countries), the clinical actionability of ECS in LMICs (low middle income countries) with high consanguineous unions is not well-understood. Retrospective chart review of couples who presented to the Prenatal Genetics Clinic at Aga Khan University Hospital, between the period of June 2018 and November 2022.
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The spectrum of hereditary neuromuscular disorders in the Pakistani population

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By Shahnaz H Ibrahim, Fizza Akbar, Shafaq Muhammad Saleem, Ehtesham Khalid
| pericles.pericles-prod.literatumonline.com
DATA AVAILABILITY STATEMENT The data that support the findings of this study are available from the corresponding author upon reasonable request.
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