日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family

在巴基斯坦一个近亲结婚家庭中,鉴定出与慢性中耳炎共分离的BSN基因罕见错义变异

Yousaf, Ayesha; Yousaf, Sairah; Shabbir, Asra S; Yousaf, Rafia; Riazuddin, Saima; Shaikh, Rehan S; Santos-Cortez, Regie Lyn P; Ahmed, Zubair M

Genetic Causes of Oculocutaneous Albinism in Pakistani Population

巴基斯坦人群眼皮肤白化病的遗传原因

Sajid, Zureesha; Yousaf, Sairah; Waryah, Yar M; Mughal, Tauqeer A; Kausar, Tasleem; Shahzad, Mohsin; Rao, Ali R; Abbasi, Ansar A; Shaikh, Rehan S; Waryah, Ali M; Riazuddin, Saima; Ahmed, Zubair M

Multi-omic studies on missense PLG variants in families with otitis media

针对中耳炎家族中PLG错义变异的多组学研究

Bootpetch, Tori C; Hafrén, Lena; Elling, Christina L; Baschal, Erin E; Manichaikul, Ani W; Pine, Harold S; Szeremeta, Wasyl; Scholes, Melissa A; Cass, Stephen P; Larson, Eric D; Chan, Kenny H; Ishaq, Rafaqat; Prager, Jeremy D; Shaikh, Rehan S; Gubbels, Samuel P; Yousaf, Ayesha; Wine, Todd M; Bamshad, Michael J; Yoon, Patricia J; Jenkins, Herman A; Nickerson, Deborah A; Streubel, Sven-Olrik; Friedman, Norman R; Frank, Daniel N; Einarsdottir, Elisabet; Kere, Juha; Riazuddin, Saima; Daly, Kathleen A; Leal, Suzanne M; Ryan, Allen F; Mattila, Petri S; Ahmed, Zubair M; Sale, Michele M; Chonmaitree, Tasnee; Santos-Cortez, Regie Lyn P

Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss

在家族性语前听力损失病例中发现CLPP、LARS2、CDH23和COL4A5的新突变

Zafar, Saba; Shahzad, Mohsin; Ishaq, Rafaqat; Yousaf, Ayesha; Shaikh, Rehan S; Akram, Javed; Ahmed, Zubair M; Riazuddin, Saima

Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.

SLC24A5 变体的分子特征分析及尼替西酮治疗在 OCA6 斑马鱼模型中的疗效评价

Yousaf Sairah, Sethna Saumil, Chaudhary Muhammad A, Shaikh Rehan S, Riazuddin Saima, Ahmed Zubair M

Molecular detection of Ehrlichia canis in dogs from three districts in Punjab (Pakistan)

对巴基斯坦旁遮普省三个地区的犬只进行犬埃里希氏体分子检测

Malik, Muhammad I; Qamar, Muhammad; Ain, Quratul; Hussain, Malik F; Dahmani, Mustapha; Ayaz, Mazhar; Mahmood, Asim K; Davoust, Bernard; Shaikh, Rehan S; Iqbal, Furhan

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population

巴基斯坦人群中Hermansky-Pudlak综合征等位基因的鉴定和临床特征分析

Yousaf, Sairah; Shahzad, Mohsin; Kausar, Tasleem; Sheikh, Shakeel A; Tariq, Nabeela; Shabbir, Asra S; Ali, Muhammad; Waryah, Ali M; Shaikh, Rehan S; Riazuddin, Saima; Ahmed, Zubair M

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

人类CNGA3通道的纯合错义变异导致视锥细胞-视杆细胞营养不良

Shaikh, Rehan S; Reuter, Peggy; Sisk, Robert A; Kausar, Tasleem; Shahzad, Mohsin; Maqsood, Muhammad I; Yousif, Ateeq; Ali, Muhammad; Riazuddin, Saima; Wissinger, Bernd; Ahmed, Zubair M

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population

巴基斯坦人群中天然人类黑皮质素1受体突变等位基因的鉴定和功能表征

Shahzad, Mohsin; Sires Campos, Julia; Tariq, Nabeela; Herraiz Serrano, Cecilia; Yousaf, Rizwan; Jiménez-Cervantes, Celia; Yousaf, Sairah; Waryah, Yar M; Dad, Haseeb A; Blue, Elizabeth M; Sobreira, Nara; López-Giráldez, Francesc; Kausar, Tasleem; Ali, Muhammad; Waryah, Ali M; Riazuddin, Saima; Shaikh, Rehan S; García-Borrón, José C; Ahmed, Zubair M

Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

巴基斯坦人群眼皮肤白化病表型的分子遗传学研究和界定

Jaworek, Thomas J; Kausar, Tasleem; Bell, Shannon M; Tariq, Nabeela; Maqsood, Muhammad Imran; Sohail, Asma; Ali, Muhmmmad; Iqbal, Furhan; Rasool, Shafqat; Riazuddin, Saima; Shaikh, Rehan S; Ahmed, Zubair M