Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Fizza Akbar"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100979- (2024)
Externí odkaz:
https://doaj.org/article/b78fd61e74c34ddaa8fba5ab436adc34
Autor:
Amna Hanif, Fizza Akbar, Salman Kirmani, Amyna Jaffarali, Ghulam Zainab, Ayesha Malik, Zeeshan Ansar, Bushra Afroze
Publikováno v:
BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Objectives Explore health-care seeking behaviour among couples with pregnancies at-risk of monogenic disorders and compare time duration for obtaining Prenatal Genetic Test (PGT) results based on (i) amniocentesis and Chorionic Villus Sampli
Externí odkaz:
https://doaj.org/article/e361a5caaaee41eabeef3ef87360b6cc
Autor:
Fizza Akbar, Zahraa Siddiqui, Muhammad Talha Waheed, Lubaina Ehsan, Syed Ibaad Ali, Hajra Wiquar, Azmina Tajuddin Valimohammed, Shaista Khan, Lubna Vohra, Sana Zeeshan, Yasmin Rashid, Munira Moosajee, Adnan Abdul Jabbar, Muhammad Nauman Zahir, Naila Zahid, Rufina Soomro, Najeeb Niamat Ullah, Imran Ahmad, Ghulam Haider, Uzair Ansari, Arjumand Rizvi, Arif Mehboobali, Abida Sattar, Salman Kirmani
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
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100126- (2023)
Externí odkaz:
https://doaj.org/article/f54ad9626f724744b394093affee3c89
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100242- (2023)
Externí odkaz:
https://doaj.org/article/6f51d5cf23134f7388fa4910c524312a
Autor:
Malika Fatima, Maheen Zakaria, Fizza Akbar, Irfan Jeeva, Haroon Tayyab, Rehman Siddiqui, Salman Kirmani
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100396- (2023)
Externí odkaz:
https://doaj.org/article/575f2c9d37044f4fb1789a7871f466ab
Autor:
Fizza Akbar, Raisa Saleh, Salman Kirmani, Prem Chand, Khairunnisa Mukhtiar, Farida Jan, Raman Kumar, Shahnaz Ibrahim
Publikováno v:
Epilepsy & Behavior Reports, Vol 20, Iss , Pp 100575- (2022)
Monogenic epilepsies are a significant etiology of pediatric epilepsy. These are now more easily identified due to advances in genetic testing. However, the utility of genetic testing in low to middle-income countries (LMICs) has not been fully explo
Externí odkaz:
https://doaj.org/article/219e0e6e89a640188fea454257d892b7
Publikováno v:
Case Reports in Genetics, Vol 2022 (2022)
We describe a male patient with a novel TTI2 variant, which has not been previously associated with a human phenotype. His features include intellectual disability, primary microcephaly, delayed psychomotor development, speech delay, short stature, d
Externí odkaz:
https://doaj.org/article/81e021154fbd4fe1bdfc27b73b1ae57d
Publikováno v:
World Journal of Surgery.
Autor:
Anna Lehman, Christina T. Rüsch, Angela F. Brady, Julie S. Cohen, Millan S. Patel, Rani Sachdev, Usha Kini, Elizabeth E. Palmer, Reza Maroofian, Sonal Mahida, Karen Stals, Roger L. Ladda, Yoshiko Murakami, Camille Tremblay-Laganière, Tahsin Stefan Barakat, Scott D. McLean, Fizza Akbar, Marilena Christoforou, Farah Ashrafzadeh, Melissa A. Walker, Grazia M.S. Mancini, Salman Kirmani, Kimberly Nugent, Philippe M. Campeau, Fatima Y. Ismail, Amanda Nagy, Sian Ellard, Stephanie Efthymiou, Bushra Afroze, Rebecca Macintosh, Saskia B. Wortmann, Danilo Bernardo, Rebecca Truty, Matias Wagner, Shahnaz Ibrahim, Tipu Sultan, Kristin W. Barañano, Stylianos E. Antonarakis, Yuta Maki, Thi Tuyet Mai Nguyen, Henry Houlden, Robert Steinfeld, Saadet Mercimek-Andrews, Taroh Kinoshita, Georg M. Stettner, Andrew C. Edmondson, Naila Ismayilova, Meisam Babaei, Heather M. McLaughlin, Mohammad Doosti, Ehsan Ghayoor Karimiani
Publikováno v:
Genet. Med. 23, 1873-1881 (2021)
Genetics in Medicine, 23(10), 1873-1881. Lippincott Williams & Wilkins
Genet Med
Genetics in Medicine, 23(10), 1873-1881. Lippincott Williams & Wilkins
Genet Med
Purpose Phosphatidylinositol Glycan Anchor Biosynthesis, class G (PIGG) is an ethanolamine phosphate transferase catalyzing the modification of glycosylphosphatidylinositol (GPI). GPI serves as an anchor on the cell membrane for surface proteins call