PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly

por Krishnamurthy, Kritika, Edema, Ukuemi, Ustun, Berrin, Villanueva-Siles, Esperanza, Koehler, Steven M, Naeem, Rizwan, Wang, Yanhua, Goldstein, Doctor Y
Publicado 2023

Identifying the current status and future needs of clinical, educational, and laboratory genetics services in Pakistan: a web-based panel discussion

por Ashfaq, Myla, Ahmed, Syed A., Aziz-Rizvi, Rabia, Hasan, Zahra, Kirmani, Salman, Munim, Shama, Naeem, Rizwan, Raza, Jamal, Furqan, Aisha
Publicado 2022

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication

por Azad, Abul Kalam, Yanakakis, Lindsay, Issleb, Samantha, Turina, Jessica, Drabik, Kelli, Bonner, Christina, Simi, Eve, Wagner, Andrew, Fiddler, Morry, Naeem, Rizwan
Publicado 2020

A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review

por Ma, Deqiong, Marion, Robert, Punjabi, Netra Prasad, Pereira, Elaine, Samanich, Joy, Agarwal, Chhavi, Li, Jianli, Huang, Chih-Kang, Ramesh, K H, Cannizzaro, Linda A, Naeem, Rizwan
Publicado 2014