Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)

por Qarnain, Zul, Khan, Fatima, Akbar, Fizza, Kirmani, Salman
Publicado 2022

Assessing Health-Related Quality of Life, Morbidity, and Survival Status for Individuals With Down Syndrome in Pakistan (DS-Pak): Protocol for a Web-Based Collaborative Registry

por Siddiqui, Ayat, Ladak, Laila Akbar, Kazi, Abdul Momin, Kaleem, Sidra, Akbar, Fizza, Kirmani, Salman
Publicado 2021

Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country

por Hanif, Amna, Akbar, Fizza, Kirmani, Salman, Jaffarali, Amyna, Zainab, Ghulam, Malik, Ayesha, Ansar, Zeeshan, Afroze, Bushra
Publicado 2023

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country

por Akbar, Fizza, Saleh, Raisa, Kirmani, Salman, Chand, Prem, Mukhtiar, Khairunnisa, Jan, Farida, Kumar, Raman, Ibrahim, Shahnaz
Publicado 2022

Spectrum of germline pathogenic variants using a targeted next generation sequencing panel and genotype-phenotype correlations in patients with suspected hereditary breast cancer a...

por Akbar, Fizza, Siddiqui, Zahraa, Waheed, Muhammad Talha, Ehsan, Lubaina, Ali, Syed Ibaad, Wiquar, Hajra, Valimohammed, Azmina Tajuddin, Khan, Shaista, Vohra, Lubna, Zeeshan, Sana, Rashid, Yasmin, Moosajee, Munira, Jabbar, Adnan Abdul, Zahir, Muhammad Nauman, Zahid, Naila, Soomro, Rufina, Ullah, Najeeb Niamat, Ahmad, Imran, Haider, Ghulam, Ansari, Uzair, Rizvi, Arjumand, Mehboobali, Arif, Sattar, Abida, Kirmani, Salman
Publicado 2022